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PAX6 paired box 6 [Homo sapiens (human)]

Gene Symbol PAX6
Entrez Gene ID 5080
Full Name paired box 6
Synonyms AN, AN2, D11S812E, FVH1, MGDA, WAGR
General protein information
Preferred Names
paired box protein Pax-6
Names
paired box protein Pax-6
oculorhombin
aniridia type II protein
paired box homeotic gene-6
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p13

Summary This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. lac of sum
Disorder MIM:

607108

Disorder Html: Aniridia, 106210 (3); Peters anomaly, 604229 (3); Cataract with
CloneID RefSeq Accession Definition **Vector *Turnaround time Price
OHu20414 NM_000280 Homo sapiens paired box 6 (PAX6), transcript variant 1, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20729 NM_001604 Homo sapiens paired box 6 (PAX6), transcript variant 2, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20414 NM_001258464 Homo sapiens paired box 6 (PAX6), transcript variant 6, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20414 NM_001127612 Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20414 NM_001258465 Homo sapiens paired box 6 (PAX6), transcript variant 7, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20729 NM_001258462 Homo sapiens paired box 6 (PAX6), transcript variant 4, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20729 NM_001310158 Homo sapiens paired box 6 (PAX6), transcript variant 8, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu59497 NM_001310159 Homo sapiens paired box 6 (PAX6), transcript variant 9, mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00
OHu44891 NM_001310161 Homo sapiens paired box 6 (PAX6), transcript variant 11, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu44891 NM_001310160 Homo sapiens paired box 6 (PAX6), transcript variant 10, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu59498 XM_011520146 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X1, mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00
OHu59499 XM_011520147 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X2, mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00
OHu59500 XM_011520148 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X3, mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00
OHu20729 XM_005252954 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X4, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20729 XM_011520149 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X5, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20729 XM_011520150 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X6, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu59501 XM_011520151 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X7, mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00
OHu20414 XM_005252955 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X8, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20414 XM_005252956 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X9, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu44889 XM_011520152 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X10, mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00
OHu44890 XM_006718246 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X11, mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00
OHu44891 XM_011520153 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X12, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu44891 XM_005252958 PREDICTED: Homo sapiens paired box 6 (PAX6), transcript variant X13, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu20729 NM_001258463 Homo sapiens paired box 6 (PAX6), transcript variant 5, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00

*Business Day
**You may select a custom vector to replace pcDNA3.1-C-(k)DYK after clone is added to cart.



CloneID OHu20414D
Sequence Information ORF Nucleotide Sequence (Length: 1269bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 08-JUL-2015
Organism Homo sapiens (human)
Product paired box protein Pax-6 isoform a
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA078958.1, M93650.1, Z83307.1 and BP394576.1. On May 5, 2012 this sequence version replaced gi:189083678. Summary: This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. Transcript Variant: This variant (1) initiates from the B (P1) promoter and encodes isoform a. Variants 1, 3, 6 and 7 encode the same isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M93650.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GGTGTCCAAC GGATGTGTGA GTAAAATTCT GGGCAGGTAT
TACGAGACTG GCTCCATCAG ACCCAGGGCA ATCGGTGGTA GTAAACCGAG AGTAGCGACT
CCAGAAGTTG TAAGCAAAAT AGCCCAGTAT AAGCGGGAGT GCCCGTCCAT CTTTGCTTGG
GAAATCCGAG ACAGATTACT GTCCGAGGGG GTCTGTACCA ACGATAACAT ACCAAGCGTG
TCATCAATAA ACAGAGTTCT TCGCAACCTG GCTAGCGAAA AGCAACAGAT GGGCGCAGAC
GGCATGTATG ATAAACTAAG GATGTTGAAC GGGCAGACCG GAAGCTGGGG CACCCGCCCT
GGTTGGTATC CGGGGACTTC GGTGCCAGGG CAACCTACGC AAGATGGCTG CCAGCAACAG
GAAGGAGGGG GAGAGAATAC CAACTCCATC AGTTCCAACG GAGAAGATTC AGATGAGGCT
CAAATGCGAC TTCAGCTGAA GCGGAAGCTG CAAAGAAATA GAACATCCTT TACCCAAGAG
CAAATTGAGG CCCTGGAGAA AGAGTTTGAG AGAACCCATT ATCCAGATGT GTTTGCCCGA
GAAAGACTAG CAGCCAAAAT AGATCTACCT GAAGCAAGAA TACAGGTATG GTTTTCTAAT
CGAAGGGCCA AATGGAGAAG AGAAGAAAAA CTGAGGAATC AGAGAAGACA GGCCAGCAAC
ACACCTAGTC ATATTCCTAT CAGCAGTAGT TTCAGCACCA GTGTCTACCA ACCAATTCCA
CAACCCACCA CACCGGTTTC CTCCTTCACA TCTGGCTCCA TGTTGGGCCG AACAGACACA
GCCCTCACAA ACACCTACAG CGCTCTGCCG CCTATGCCCA GCTTCACCAT GGCAAATAAC
CTGCCTATGC AACCCCCAGT CCCCAGCCAG ACCTCCTCAT ACTCCTGCAT GCTGCCCACC
AGCCCTTCGG TGAATGGGCG GAGTTATGAT ACCTACACCC CCCCACATAT GCAGACACAC
ATGAACAGTC AGCCAATGGG CACCTCGGGC ACCACTTCAA CAGGACTCAT TTCCCCTGGT
GTGTCAGTTC CAGTTCAAGT TCCCGGAAGT GAACCTGATA TGTCTCAATA CTGGCCAAGA
TTACAGTAA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_000271.1
CDS556..1824
Misc Feature(1)20..20(+)
Misc Feature(2)439..441(+)
Misc Feature(3)568..948(+)
Misc Feature(4)580..939(+)
Misc Feature(5)631..939(+)
Misc Feature(6)1189..1362(+)
Misc Feature(7)1189..1356(+)
Misc Feature(8)1192..1344(+)
Misc Feature(9)1396..1398(+)
Misc Feature(10)1465..1467(+)
Misc Feature(11)1672..1674(+)
Exon (1)1..239
Gene:PAX6
Gene Synonym:
Exon (2)240..427
Gene:PAX6
Gene Synonym:
Exon (3)428..504
Gene:PAX6
Gene Synonym:
Exon (4)505..565
Gene:PAX6
Gene Synonym:
Exon (5)566..696
Gene:PAX6
Gene Synonym:
Exon (6)697..912
Gene:PAX6
Gene Synonym:
Exon (7)913..1078
Gene:PAX6
Gene Synonym:
Exon (8)1079..1237
Gene:PAX6
Gene Synonym:
Exon (9)1238..1320
Gene:PAX6
Gene Synonym:
Exon (10)1321..1471
Gene:PAX6
Gene Synonym:
Exon (11)1472..1587
Gene:PAX6
Gene Synonym:
Exon (12)1588..1738
Gene:PAX6
Gene Synonym:
Exon (13)1739..6966
Gene:PAX6
Gene Synonym:
Translation
Position Chain Variation Link
41 41 c, g dbSNP:758692972
84 84 a, c dbSNP:537507423
94 94 c, g dbSNP:781319931
173 173 g, t dbSNP:570240072
205 205 c, t dbSNP:554816879
261 261 a, c dbSNP:368691530
333 333 c, t dbSNP:547667102
376 376 a, g dbSNP:75563367
409 409 a, g dbSNP:192375760
416 416 a, t dbSNP:763579166
430 430 a, g dbSNP:769767377
443 443 a, t dbSNP:188423337
449 449 c, t dbSNP:111270711
451 451 c, t dbSNP:772347668
506 506 a, g dbSNP:750607024
517 517 a, g, t dbSNP:370232963
525 525 c, t dbSNP:754173950
531 531 c, t dbSNP:376974874
544 544 a, g dbSNP:373532310
551 551 a, c dbSNP:761226699
588 588 c, t dbSNP:772746456
591 591 c, t dbSNP:769593111
601 601 -, g dbSNP:398123296
624 624 c, t dbSNP:747921005
627 627 c, t dbSNP:776541044
631 631 c, g dbSNP:121907913
643 643 a, g dbSNP:768554144
645 645 a, g dbSNP:747019294
648 648 a, g dbSNP:778947003
667 667 c, t dbSNP:397514640
678 678 c, t dbSNP:757338362
685 685 a, c dbSNP:141873759
691 691 c, g dbSNP:78692805
693 693 g, t dbSNP:777885823
705 705 a, c, t dbSNP:727504064
707 707 g, t dbSNP:587778874
729 729 c, t dbSNP:763807196
738 738 c, t dbSNP:760490431
746 746 g, t dbSNP:121907920
754 754 a, c dbSNP:775355156
756 756 a, g dbSNP:771974160
757 757 c, t dbSNP:121907923
769 769 a, g dbSNP:759557055
789 789 a, g dbSNP:750195797
792 792 a, g dbSNP:538444180
802 802 a, g dbSNP:372222637
811 811 a, g dbSNP:769974302
823 823 c, t dbSNP:748252607
827 827 a, g dbSNP:781597459
830 830 a, g dbSNP:769095184
836 836 a, g dbSNP:747357950
839 839 c, g, t dbSNP:758828833
840 840 a, g dbSNP:571551224
862 862 c, t dbSNP:121907914
869 869 g, t dbSNP:746448834
874 874 c, t dbSNP:778232245
879 879 c, t dbSNP:756791622
882 882 a, g dbSNP:114384476
889 889 c, t dbSNP:112203531
892 892 a, g dbSNP:763754697
896 896 a, g dbSNP:755810074
904 904 a, t dbSNP:752455847
912 912 a, c dbSNP:121907928
918 918 a, g dbSNP:760926425
924 924 a, t dbSNP:775863667
932 932 a, t dbSNP:121907919
937 937 c, t dbSNP:121907918
948 948 c, t dbSNP:374436481
951 951 c, t dbSNP:146769256
961 961 c, t dbSNP:121907912
964 964 a, g dbSNP:774624136
966 966 a, g dbSNP:371018133
975 975 c, t dbSNP:1800427
976 976 a, g dbSNP:777250095
978 978 c, g dbSNP:139803630
983 983 a, g dbSNP:201983312
1005 1005 c, t dbSNP:780920168
1012 1012 a, t dbSNP:754636793
1013 1013 c, g dbSNP:751339399
1014 1014 c, t dbSNP:201200280
1015 1015 a, g dbSNP:758400541
1025 1025 g, t dbSNP:750403446
1030 1030 c, t dbSNP:372143889
1039 1039 g, t dbSNP:529518261
1047 1047 a, g dbSNP:764207199
1049 1049 a, g dbSNP:760865122
1050 1050 c, g dbSNP:374226064
1051 1051 a, t dbSNP:141021880
1055 1055 c, t dbSNP:151086737
1058 1058 c, t dbSNP:774770770
1069 1069 -, cctacgcaa dbSNP:747077748
1074 1074 a, g dbSNP:771257263
1079 1079 a, g dbSNP:751742821
1096 1096 a, g dbSNP:138803897
1101 1101 a, c dbSNP:766664478
1103 1103 c, g, t dbSNP:541894561
1104 1104 a, g dbSNP:770253438
1116 1116 c, g dbSNP:200080139
1122 1122 a, c dbSNP:776189526
1122 1122 -, c dbSNP:773606401
1134 1134 c, t dbSNP:367589686
1135 1135 a, g dbSNP:374396492
1143 1143 c, g, t dbSNP:3026383
1154 1154 c, t dbSNP:771949142
1162 1162 c, t dbSNP:121907916
1168 1168 c, t dbSNP:121907924
1169 1169 a, c dbSNP:745639948
1171 1171 c, t dbSNP:778895282
1177 1177 c, t dbSNP:757259413
1178 1178 a, g dbSNP:749244084
1203 1203 c, t dbSNP:373715028
1212 1212 a, g dbSNP:539046948
1215 1215 a, g dbSNP:755018027
1218 1218 a, g dbSNP:751765079
1230 1230 a, g dbSNP:766564648
1254 1254 c, t dbSNP:758603708
1260 1260 a, t dbSNP:773995611
1266 1266 a, g dbSNP:145329506
1273 1273 c, t dbSNP:121907917
1275 1275 a, g dbSNP:200916868
1280 1280 c, g dbSNP:121907927
1281 1281 a, g dbSNP:757591036
1295 1295 c, t dbSNP:754317483
1311 1311 a, g dbSNP:764490432
1321 1321 a, g dbSNP:779126789
1326 1326 a, g dbSNP:121907929
1328 1328 c, t dbSNP:121907925
1354 1354 a, g dbSNP:201846044
1355 1355 g, t dbSNP:199610944
1359 1359 a, g dbSNP:200764930
1363 1363 a, g dbSNP:201439078
1386 1386 a, g dbSNP:149053004
1413 1413 c, t dbSNP:200631911
1416 1416 c, t dbSNP:754125688
1421 1421 c, g dbSNP:778271366
1422 1422 c, t dbSNP:202154006
1431 1431 c, t dbSNP:753272015
1464 1464 c, t dbSNP:767071687
1469 1469 c, t dbSNP:759150602
1470 1470 a, g dbSNP:146433004
1473 1473 c, t dbSNP:764898561
1477 1477 c, t dbSNP:761616236
1485 1485 a, t dbSNP:779631884
1491 1491 c, t dbSNP:115833025
1498 1498 c, t dbSNP:373147550
1505 1505 a, g dbSNP:75572362
1506 1506 a, g dbSNP:755795666
1512 1512 c, g, t dbSNP:184589894
1517 1517 a, c, g dbSNP:773515612
1524 1524 a, g dbSNP:770236522
1530 1530 c, t dbSNP:371568746
1532 1532 a, g dbSNP:543260074
1533 1533 c, g dbSNP:786205467
1536 1536 c, t dbSNP:139416026
1544 1544 c, t dbSNP:755528147
1545 1545 a, g dbSNP:146261351
1549 1549 a, t dbSNP:779363005
1554 1554 c, t dbSNP:757953783
1556 1556 c, g dbSNP:749992296
1557 1557 c, g dbSNP:764917402
1564 1564 a, g dbSNP:756940209
1572 1572 a, t dbSNP:753629975
1575 1575 c, t dbSNP:763938604
1579 1579 c, t dbSNP:760551416
1591 1591 c, g dbSNP:780973082
1601 1601 c, g dbSNP:754759536
1612 1612 g, t dbSNP:373661718
1613 1613 c, g dbSNP:121907915
1638 1638 -, c dbSNP:34615233
1644 1644 a, g dbSNP:369447790
1650 1650 c, t dbSNP:200959420
1655 1655 a, g dbSNP:780115865
1667 1667 c, t dbSNP:780842357
1672 1672 a, g dbSNP:758447642
1673 1673 c, g dbSNP:201690439
1677 1677 c, t dbSNP:764134540
1679 1679 -, c dbSNP:756801119
1679 1679 a, c dbSNP:200015827
1684 1684 a, t dbSNP:752871485
1692 1692 a, c, t dbSNP:143477661
1694 1694 a, g dbSNP:774747652
1707 1707 a, g dbSNP:766842413
1712 1712 c, t dbSNP:763519655
1713 1713 a, g dbSNP:772696878
1714 1714 c, g dbSNP:769190973
1726 1726 a, g dbSNP:121907926
1743 1743 a, c dbSNP:776244636
1749 1749 c, t dbSNP:78290542
1755 1755 g, t dbSNP:372956285
1779 1779 a, c, t dbSNP:369180308
1789 1789 c, t dbSNP:745762788
1794 1794 c, t dbSNP:778743004
1795 1795 a, g dbSNP:541260494
1796 1796 c, t dbSNP:748146547
1799 1799 c, g dbSNP:781399901
1814 1814 a, g dbSNP:755181141
1816 1816 -, ttacagt dbSNP:757946805
1818 1818 a, c dbSNP:35727210
1819 1819 a, c dbSNP:751795008
1820 1820 a, g dbSNP:780356070
1821 1821 a, g dbSNP:758783285
1822 1822 a, t dbSNP:750848278
1823 1823 a, t dbSNP:121907922
1835 1835 -, g dbSNP:752539155
1843 1843 -, aaa dbSNP:760883786
1844 1844 -, aa dbSNP:759391101
1845 1845 -, a, aa, aaa dbSNP:766383236
1845 1845 -, a dbSNP:780753075
1851 1851 a, g dbSNP:765630322
1857 1857 a, t dbSNP:186495466
1858 1858 c, t dbSNP:753270350
1861 1861 -, t dbSNP:772347211
1871 1871 c, g dbSNP:763707989
1882 1882 a, c, t dbSNP:775315951
1892 1892 a, g dbSNP:781672782
1909 1909 a, g dbSNP:577492950
1910 1910 a, g dbSNP:759234423
1914 1914 a, c dbSNP:572377074
1928 1928 g, t dbSNP:201999673
1929 1929 c, g, t dbSNP:765087371
1935 1935 c, t dbSNP:749305106
1936 1936 a, g dbSNP:755533758
1948 1948 c, t dbSNP:375196435
1950 1950 a, g dbSNP:747184562
1958 1958 c, g dbSNP:754742074
1962 1962 a, g dbSNP:780225831
1973 1973 a, g dbSNP:558806590
2011 2011 a, g dbSNP:758658941
2015 2015 a, g dbSNP:750748406
2037 2037 a, g dbSNP:539058643
2043 2043 a, g dbSNP:779388577
2050 2050 c, t dbSNP:753595935
2072 2072 a, g, t dbSNP:568482434
2084 2084 a, g dbSNP:754370657
2116 2116 a, c dbSNP:150518775
2131 2131 a, t dbSNP:752052976
2159 2159 c, t dbSNP:766518284
2180 2180 a, t dbSNP:774392481
2180 2180 -, t dbSNP:200391530
2181 2181 a, t dbSNP:774473337
2185 2185 -, a dbSNP:553690261
2241 2241 c, t dbSNP:55756603
2268 2268 c, t dbSNP:568060956
2292 2292 a, g dbSNP:546803677
2300 2300 c, g dbSNP:534503925
2317 2317 a, g dbSNP:762915630
2427 2427 -, a dbSNP:369801879
2427 2427 a, g dbSNP:3026394
2465 2465 a, g dbSNP:181456283
2486 2486 g, t dbSNP:570775936
2510 2510 c, t dbSNP:768630698
2518 2518 a, t dbSNP:750692692
2587 2587 a, g dbSNP:368683181
2607 2607 a, g dbSNP:189275679
2614 2614 c, t dbSNP:763448163
2665 2665 c, t dbSNP:530931929
2666 2666 a, g dbSNP:115045926
2701 2701 a, g dbSNP:185996251
2715 2715 a, g dbSNP:530259403
2720 2720 c, g dbSNP:559569624
2887 2887 a, g dbSNP:117590302
2892 2892 c, t dbSNP:11827725
2903 2903 g, t dbSNP:558685564
2937 2937 c, t dbSNP:770219222
3008 3008 a, t dbSNP:1506
3016 3016 c, g dbSNP:556014842
3065 3065 c, t dbSNP:565256070
3105 3105 c, t dbSNP:543660269
3111 3111 a, t dbSNP:576321279
3125 3125 c, t dbSNP:760564578
3218 3218 a, c dbSNP:776894983
3260 3260 a, g dbSNP:138035131
3285 3285 g, t dbSNP:770591510
3302 3302 c, t dbSNP:181818313
3367 3367 a, g dbSNP:777414955
3403 3403 g, t dbSNP:574512131
3426 3426 a, t dbSNP:771638843
3428 3428 a, t dbSNP:189545730
3441 3441 c, t dbSNP:185022053
3553 3553 c, t dbSNP:747672883
3578 3578 c, t dbSNP:771990073
3588 3588 a, t dbSNP:778860014
3603 3603 a, g dbSNP:3026395
3610 3610 a, g dbSNP:192091385
3674 3674 a, c dbSNP:754902401
3680 3680 c, g dbSNP:753637547
3710 3710 c, t dbSNP:759587253
3762 3762 a, g dbSNP:189220045
3811 3811 a, g dbSNP:552510355
3881 3881 a, g dbSNP:537383377
3882 3882 c, t dbSNP:757458670
3933 3933 g, t dbSNP:370447209
3983 3983 a, c, t dbSNP:3026396
3984 3984 a, g dbSNP:12421026
4014 4014 c, t dbSNP:530026066
4062 4062 g, t dbSNP:73477658
4105 4105 a, t dbSNP:547544629
4125 4125 a, g dbSNP:371522277
4129 4129 a, g dbSNP:73477656
4195 4195 c, t dbSNP:764306805
4228 4228 c, g dbSNP:558820911
4236 4236 a, g dbSNP:662702
4240 4240 g, t dbSNP:79739975
4259 4259 c, g dbSNP:561409660
4307 4307 c, t dbSNP:541826815
4317 4317 c, t dbSNP:574324676
4330 4330 c, t dbSNP:3026397
4376 4376 a, g dbSNP:760005375
4383 4383 a, g dbSNP:141344418
4407 4407 a, g dbSNP:771263641
4432 4432 -, g dbSNP:529299099
4489 4489 c, t dbSNP:577003141
4519 4519 a, t dbSNP:558836571
4521 4521 a, t dbSNP:138881442
4531 4531 c, t dbSNP:3026398
4543 4543 c, t dbSNP:554531111
4602 4602 c, t dbSNP:184858724
4621 4621 c, t dbSNP:565884645
4627 4627 a, c dbSNP:550826509
4628 4628 a, t dbSNP:771871697
4631 4631 a, g dbSNP:547876359
4645 4645 c, t dbSNP:532518402
4658 4658 c, t dbSNP:571388508
4690 4690 a, g dbSNP:747619738
4706 4706 c, t dbSNP:143185259
4714 4714 a, t dbSNP:111506276
4715 4715 a, t dbSNP:111584109
4716 4716 -, attt dbSNP:397795797
4716 4716 a, t dbSNP:112863817
4719 4719 -, attt dbSNP:371844951
4720 4720 -, att, attt dbSNP:10623053
4721 4721 a, t dbSNP:375367578
4725 4725 c, t dbSNP:542906080
4741 4741 g, t dbSNP:372093736
4743 4743 c, t dbSNP:758752416
4764 4764 c, t dbSNP:778326111
4801 4801 a, c dbSNP:192709453
4809 4809 a, g dbSNP:3026399
4851 4851 a, g dbSNP:541022955
4890 4890 a, c dbSNP:577038770
4903 4903 a, g dbSNP:145696496
4904 4904 c, t dbSNP:558669321
4933 4933 c, t dbSNP:543657720
4992 4992 c, t dbSNP:187705792
5026 5026 a, g dbSNP:608293
5033 5033 c, t dbSNP:182664507
5068 5068 a, t dbSNP:200326314
5069 5069 -, tttt dbSNP:397768344
5069 5069 c, t dbSNP:202143838
5070 5070 -, tttt dbSNP:34919147
5071 5071 a, t dbSNP:3026400
5072 5072 -, ttat, tttt dbSNP:138907979
5135 5135 c, g dbSNP:755840816
5142 5142 a, g dbSNP:371438311
5151 5151 c, t dbSNP:750233565
5219 5219 a, c dbSNP:777926361
5252 5252 c, t dbSNP:191399467
5332 5332 a, g dbSNP:538635671
5351 5351 a, c dbSNP:758654517
5372 5372 a, g dbSNP:752794595
5414 5414 a, g dbSNP:765287348
5494 5494 c, t dbSNP:149777109
5509 5509 a, t dbSNP:754228015
5518 5518 a, g dbSNP:549835579
5560 5560 -, ca dbSNP:141022497
5566 5566 a, g dbSNP:531792461
5568 5568 c, t dbSNP:767004336
5570 5570 c, t dbSNP:567720234
5635 5635 a, g dbSNP:373404895
5653 5653 a, t dbSNP:549546285
5693 5693 -, aa dbSNP:747553297
5706 5706 c, t dbSNP:187714007
5709 5709 g, t dbSNP:183433948
5782 5782 a, g dbSNP:3026401
5790 5790 c, t dbSNP:190491652
5828 5828 a, t dbSNP:560550871
5885 5885 a, g dbSNP:200059324
5886 5886 g, t dbSNP:767247431
5897 5897 a, c dbSNP:560212635
5918 5918 a, g dbSNP:765351129
5947 5947 a, c dbSNP:757623571
5950 5950 c, t dbSNP:564992218
6010 6010 a, g dbSNP:543493095
6058 6058 a, g dbSNP:548846660
6064 6064 a, g dbSNP:374309046
6098 6098 a, g dbSNP:761607482
6101 6101 a, g dbSNP:541788322
6120 6120 c, g dbSNP:16922475
6121 6121 c, t dbSNP:186769968
6143 6143 c, g dbSNP:542787301
6153 6153 a, g dbSNP:572287003
6193 6193 a, c, g dbSNP:544117348
6194 6194 c, g dbSNP:183115097
6205 6205 a, t dbSNP:748836383
6213 6213 -, aa dbSNP:777790874
6261 6261 c, t dbSNP:538672567
6286 6286 g, t dbSNP:775235098
6324 6324 c, t dbSNP:769748376
6357 6357 c, t dbSNP:745626044
6397 6397 a, t dbSNP:577569048
6411 6411 c, t dbSNP:191251943
6423 6423 g, t dbSNP:185968715
6451 6451 a, c dbSNP:140971065
6474 6474 a, g dbSNP:563195323
6475 6475 a, c dbSNP:781008488
6520 6520 c, g dbSNP:180780893
6546 6546 c, t dbSNP:544178082
6582 6582 a, g dbSNP:758601497
6588 6588 c, t dbSNP:534387233
6601 6601 c, g dbSNP:556214355
6603 6603 a, g dbSNP:567186138
6609 6609 -, a dbSNP:35674517
6666 6666 c, t dbSNP:188417347
6692 6692 c, t dbSNP:532145324
6695 6695 c, t dbSNP:564825208
6770 6770 a, g dbSNP:549791945
6820 6820 c, t dbSNP:531351390
6823 6823 c, t dbSNP:759356480
6830 6830 c, g dbSNP:748381549
6853 6853 c, t dbSNP:543950317
6884 6884 a, c dbSNP:774374777
6932 6932 a, g dbSNP:146579778
6962 6962 c, t dbSNP:754952455

Target ORF information:

RefSeq Version NM_000280
Organism Homo sapiens (human)
Definition Homo sapiens paired box 6 (PAX6), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_000280

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GGTGTCCAAC GGATGTGTGA GTAAAATTCT GGGCAGGTAT
TACGAGACTG GCTCCATCAG ACCCAGGGCA ATCGGTGGTA GTAAACCGAG AGTAGCGACT
CCAGAAGTTG TAAGCAAAAT AGCCCAGTAT AAGCGGGAGT GCCCGTCCAT CTTTGCTTGG
GAAATCCGAG ACAGATTACT GTCCGAGGGG GTCTGTACCA ACGATAACAT ACCAAGCGTG
TCATCAATAA ACAGAGTTCT TCGCAACCTG GCTAGCGAAA AGCAACAGAT GGGCGCAGAC
GGCATGTATG ATAAACTAAG GATGTTGAAC GGGCAGACCG GAAGCTGGGG CACCCGCCCT
GGTTGGTATC CGGGGACTTC GGTGCCAGGG CAACCTACGC AAGATGGCTG CCAGCAACAG
GAAGGAGGGG GAGAGAATAC CAACTCCATC AGTTCCAACG GAGAAGATTC AGATGAGGCT
CAAATGCGAC TTCAGCTGAA GCGGAAGCTG CAAAGAAATA GAACATCCTT TACCCAAGAG
CAAATTGAGG CCCTGGAGAA AGAGTTTGAG AGAACCCATT ATCCAGATGT GTTTGCCCGA
GAAAGACTAG CAGCCAAAAT AGATCTACCT GAAGCAAGAA TACAGGTATG GTTTTCTAAT
CGAAGGGCCA AATGGAGAAG AGAAGAAAAA CTGAGGAATC AGAGAAGACA GGCCAGCAAC
ACACCTAGTC ATATTCCTAT CAGCAGTAGT TTCAGCACCA GTGTCTACCA ACCAATTCCA
CAACCCACCA CACCGGTTTC CTCCTTCACA TCTGGCTCCA TGTTGGGCCG AACAGACACA
GCCCTCACAA ACACCTACAG CGCTCTGCCG CCTATGCCCA GCTTCACCAT GGCAAATAAC
CTGCCTATGC AACCCCCAGT CCCCAGCCAG ACCTCCTCAT ACTCCTGCAT GCTGCCCACC
AGCCCTTCGG TGAATGGGCG GAGTTATGAT ACCTACACCC CCCCACATAT GCAGACACAC
ATGAACAGTC AGCCAATGGG CACCTCGGGC ACCACTTCAA CAGGACTCAT TTCCCCTGGT
GTGTCAGTTC CAGTTCAAGT TCCCGGAAGT GAACCTGATA TGTCTCAATA CTGGCCAAGA
TTACAGTAA

The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.


CloneID OHu20729D
Sequence Information ORF Nucleotide Sequence (Length: 1311bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 08-JUL-2015
Organism Homo sapiens (human)
Product paired box protein Pax-6 isoform b
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA078958.1, DA141443.1, BX640762.1, CV569250.1, Z83307.1 and BP394576.1. On May 5, 2012 this sequence version replaced gi:189083679. Summary: This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. It initiates from the B (P1) promoter. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5 and 8 encode the same isoform (b). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX640762.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GACCCATGCA GATGCAAAAG TCCAAGTGCT GGACAATCAA
AACGTGTCCA ACGGATGTGT GAGTAAAATT CTGGGCAGGT ATTACGAGAC TGGCTCCATC
AGACCCAGGG CAATCGGTGG TAGTAAACCG AGAGTAGCGA CTCCAGAAGT TGTAAGCAAA
ATAGCCCAGT ATAAGCGGGA GTGCCCGTCC ATCTTTGCTT GGGAAATCCG AGACAGATTA
CTGTCCGAGG GGGTCTGTAC CAACGATAAC ATACCAAGCG TGTCATCAAT AAACAGAGTT
CTTCGCAACC TGGCTAGCGA AAAGCAACAG ATGGGCGCAG ACGGCATGTA TGATAAACTA
AGGATGTTGA ACGGGCAGAC CGGAAGCTGG GGCACCCGCC CTGGTTGGTA TCCGGGGACT
TCGGTGCCAG GGCAACCTAC GCAAGATGGC TGCCAGCAAC AGGAAGGAGG GGGAGAGAAT
ACCAACTCCA TCAGTTCCAA CGGAGAAGAT TCAGATGAGG CTCAAATGCG ACTTCAGCTG
AAGCGGAAGC TGCAAAGAAA TAGAACATCC TTTACCCAAG AGCAAATTGA GGCCCTGGAG
AAAGAGTTTG AGAGAACCCA TTATCCAGAT GTGTTTGCCC GAGAAAGACT AGCAGCCAAA
ATAGATCTAC CTGAAGCAAG AATACAGGTA TGGTTTTCTA ATCGAAGGGC CAAATGGAGA
AGAGAAGAAA AACTGAGGAA TCAGAGAAGA CAGGCCAGCA ACACACCTAG TCATATTCCT
ATCAGCAGTA GTTTCAGCAC CAGTGTCTAC CAACCAATTC CACAACCCAC CACACCGGTT
TCCTCCTTCA CATCTGGCTC CATGTTGGGC CGAACAGACA CAGCCCTCAC AAACACCTAC
AGCGCTCTGC CGCCTATGCC CAGCTTCACC ATGGCAAATA ACCTGCCTAT GCAACCCCCA
GTCCCCAGCC AGACCTCCTC ATACTCCTGC ATGCTGCCCA CCAGCCCTTC GGTGAATGGG
CGGAGTTATG ATACCTACAC CCCCCCACAT ATGCAGACAC ACATGAACAG TCAGCCAATG
GGCACCTCGG GCACCACTTC AACAGGACTC ATTTCCCCTG GTGTGTCAGT TCCAGTTCAA
GTTCCCGGAA GTGAACCTGA TATGTCTCAA TACTGGCCAA GATTACAGTTA A
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_001595.2
CDS458..1768
Misc Feature(1)20..20(+)
Misc Feature(2)341..343(+)
Misc Feature(3)470..892(+)
Misc Feature(4)482..883(+)
Misc Feature(5)1133..1306(+)
Misc Feature(6)1133..1300(+)
Misc Feature(7)1136..1288(+)
Misc Feature(8)1340..1342(+)
Misc Feature(9)1406..1408(+)
Misc Feature(10)1616..1618(+)
Exon (1)1..141
Gene:PAX6
Gene Synonym:
Exon (2)142..329
Gene:PAX6
Gene Synonym:
Exon (3)330..406
Gene:PAX6
Gene Synonym:
Exon (4)407..467
Gene:PAX6
Gene Synonym:
Exon (5)468..598
Gene:PAX6
Gene Synonym:
Exon (6)599..640
Gene:PAX6
Gene Synonym:
Exon (7)641..856
Gene:PAX6
Gene Synonym:
Exon (8)857..1022
Gene:PAX6
Gene Synonym:
Exon (9)1023..1181
Gene:PAX6
Gene Synonym:
Exon (10)1182..1264
Gene:PAX6
Gene Synonym:
Exon (11)1265..1415
Gene:PAX6
Gene Synonym:
Exon (12)1416..1531
Gene:PAX6
Gene Synonym:
Exon (13)1532..1682
Gene:PAX6
Gene Synonym:
Exon (14)1683..6910
Gene:PAX6
Gene Synonym:
Translation
Position Chain Variation Link
41 41 c, g dbSNP:758692972
84 84 a, c dbSNP:537507423
94 94 c, g dbSNP:781319931
163 163 a, c dbSNP:368691530
235 235 c, t dbSNP:547667102
278 278 a, g dbSNP:75563367
311 311 a, g dbSNP:192375760
318 318 a, t dbSNP:763579166
332 332 a, g dbSNP:769767377
345 345 a, t dbSNP:188423337
351 351 c, t dbSNP:111270711
353 353 c, t dbSNP:772347668
408 408 a, g dbSNP:750607024
419 419 a, g, t dbSNP:370232963
427 427 c, t dbSNP:754173950
433 433 c, t dbSNP:376974874
446 446 a, g dbSNP:373532310
453 453 a, c dbSNP:761226699
490 490 c, t dbSNP:772746456
493 493 c, t dbSNP:769593111
503 503 -, g dbSNP:398123296
526 526 c, t dbSNP:747921005
529 529 c, t dbSNP:776541044
533 533 c, g dbSNP:121907913
545 545 a, g dbSNP:768554144
547 547 a, g dbSNP:747019294
550 550 a, g dbSNP:778947003
569 569 c, t dbSNP:397514640
580 580 c, t dbSNP:757338362
587 587 a, c dbSNP:141873759
593 593 c, g dbSNP:78692805
595 595 g, t dbSNP:777885823
616 616 a, c dbSNP:749347174
618 618 a, t dbSNP:121907921
619 619 a, c dbSNP:777954860
620 620 c, t dbSNP:769874876
630 630 a, g dbSNP:375526613
649 649 a, c, t dbSNP:727504064
651 651 g, t dbSNP:587778874
673 673 c, t dbSNP:763807196
682 682 c, t dbSNP:760490431
690 690 g, t dbSNP:121907920
698 698 a, c dbSNP:775355156
700 700 a, g dbSNP:771974160
701 701 c, t dbSNP:121907923
713 713 a, g dbSNP:759557055
733 733 a, g dbSNP:750195797
736 736 a, g dbSNP:538444180
746 746 a, g dbSNP:372222637
755 755 a, g dbSNP:769974302
767 767 c, t dbSNP:748252607
771 771 a, g dbSNP:781597459
774 774 a, g dbSNP:769095184
780 780 a, g dbSNP:747357950
783 783 c, g, t dbSNP:758828833
784 784 a, g dbSNP:571551224
806 806 c, t dbSNP:121907914
813 813 g, t dbSNP:746448834
818 818 c, t dbSNP:778232245
823 823 c, t dbSNP:756791622
826 826 a, g dbSNP:114384476
833 833 c, t dbSNP:112203531
836 836 a, g dbSNP:763754697
840 840 a, g dbSNP:755810074
848 848 a, t dbSNP:752455847
856 856 a, c dbSNP:121907928
862 862 a, g dbSNP:760926425
868 868 a, t dbSNP:775863667
876 876 a, t dbSNP:121907919
881 881 c, t dbSNP:121907918
892 892 c, t dbSNP:374436481
895 895 c, t dbSNP:146769256
905 905 c, t dbSNP:121907912
908 908 a, g dbSNP:774624136
910 910 a, g dbSNP:371018133
919 919 c, t dbSNP:1800427
920 920 a, g dbSNP:777250095
922 922 c, g dbSNP:139803630
927 927 a, g dbSNP:201983312
949 949 c, t dbSNP:780920168
956 956 a, t dbSNP:754636793
957 957 c, g dbSNP:751339399
958 958 c, t dbSNP:201200280
959 959 a, g dbSNP:758400541
969 969 g, t dbSNP:750403446
974 974 c, t dbSNP:372143889
983 983 g, t dbSNP:529518261
991 991 a, g dbSNP:764207199
993 993 a, g dbSNP:760865122
994 994 c, g dbSNP:374226064
995 995 a, t dbSNP:141021880
999 999 c, t dbSNP:151086737
1002 1002 c, t dbSNP:774770770
1013 1013 -, cctacgcaa dbSNP:747077748
1018 1018 a, g dbSNP:771257263
1023 1023 a, g dbSNP:751742821
1040 1040 a, g dbSNP:138803897
1045 1045 a, c dbSNP:766664478
1047 1047 c, g, t dbSNP:541894561
1048 1048 a, g dbSNP:770253438
1060 1060 c, g dbSNP:200080139
1066 1066 a, c dbSNP:776189526
1066 1066 -, c dbSNP:773606401
1078 1078 c, t dbSNP:367589686
1079 1079 a, g dbSNP:374396492
1087 1087 c, g, t dbSNP:3026383
1098 1098 c, t dbSNP:771949142
1106 1106 c, t dbSNP:121907916
1112 1112 c, t dbSNP:121907924
1113 1113 a, c dbSNP:745639948
1115 1115 c, t dbSNP:778895282
1121 1121 c, t dbSNP:757259413
1122 1122 a, g dbSNP:749244084
1147 1147 c, t dbSNP:373715028
1156 1156 a, g dbSNP:539046948
1159 1159 a, g dbSNP:755018027
1162 1162 a, g dbSNP:751765079
1174 1174 a, g dbSNP:766564648
1198 1198 c, t dbSNP:758603708
1204 1204 a, t dbSNP:773995611
1210 1210 a, g dbSNP:145329506
1217 1217 c, t dbSNP:121907917
1219 1219 a, g dbSNP:200916868
1224 1224 c, g dbSNP:121907927
1225 1225 a, g dbSNP:757591036
1239 1239 c, t dbSNP:754317483
1255 1255 a, g dbSNP:764490432
1265 1265 a, g dbSNP:779126789
1270 1270 a, g dbSNP:121907929
1272 1272 c, t dbSNP:121907925
1298 1298 a, g dbSNP:201846044
1299 1299 g, t dbSNP:199610944
1303 1303 a, g dbSNP:200764930
1307 1307 a, g dbSNP:201439078
1330 1330 a, g dbSNP:149053004
1357 1357 c, t dbSNP:200631911
1360 1360 c, t dbSNP:754125688
1365 1365 c, g dbSNP:778271366
1366 1366 c, t dbSNP:202154006
1375 1375 c, t dbSNP:753272015
1408 1408 c, t dbSNP:767071687
1413 1413 c, t dbSNP:759150602
1414 1414 a, g dbSNP:146433004
1417 1417 c, t dbSNP:764898561
1421 1421 c, t dbSNP:761616236
1429 1429 a, t dbSNP:779631884
1435 1435 c, t dbSNP:115833025
1442 1442 c, t dbSNP:373147550
1449 1449 a, g dbSNP:75572362
1450 1450 a, g dbSNP:755795666
1456 1456 c, g, t dbSNP:184589894
1461 1461 a, c, g dbSNP:773515612
1468 1468 a, g dbSNP:770236522
1474 1474 c, t dbSNP:371568746
1476 1476 a, g dbSNP:543260074
1477 1477 c, g dbSNP:786205467
1480 1480 c, t dbSNP:139416026
1488 1488 c, t dbSNP:755528147
1489 1489 a, g dbSNP:146261351
1493 1493 a, t dbSNP:779363005
1498 1498 c, t dbSNP:757953783
1500 1500 c, g dbSNP:749992296
1501 1501 c, g dbSNP:764917402
1508 1508 a, g dbSNP:756940209
1516 1516 a, t dbSNP:753629975
1519 1519 c, t dbSNP:763938604
1523 1523 c, t dbSNP:760551416
1535 1535 c, g dbSNP:780973082
1545 1545 c, g dbSNP:754759536
1556 1556 g, t dbSNP:373661718
1557 1557 c, g dbSNP:121907915
1582 1582 -, c dbSNP:34615233
1588 1588 a, g dbSNP:369447790
1594 1594 c, t dbSNP:200959420
1599 1599 a, g dbSNP:780115865
1611 1611 c, t dbSNP:780842357
1616 1616 a, g dbSNP:758447642
1617 1617 c, g dbSNP:201690439
1621 1621 c, t dbSNP:764134540
1623 1623 -, c dbSNP:756801119
1623 1623 a, c dbSNP:200015827
1628 1628 a, t dbSNP:752871485
1636 1636 a, c, t dbSNP:143477661
1638 1638 a, g dbSNP:774747652
1651 1651 a, g dbSNP:766842413
1656 1656 c, t dbSNP:763519655
1657 1657 a, g dbSNP:772696878
1658 1658 c, g dbSNP:769190973
1670 1670 a, g dbSNP:121907926
1687 1687 a, c dbSNP:776244636
1693 1693 c, t dbSNP:78290542
1699 1699 g, t dbSNP:372956285
1723 1723 a, c, t dbSNP:369180308
1733 1733 c, t dbSNP:745762788
1738 1738 c, t dbSNP:778743004
1739 1739 a, g dbSNP:541260494
1740 1740 c, t dbSNP:748146547
1743 1743 c, g dbSNP:781399901
1758 1758 a, g dbSNP:755181141
1760 1760 -, ttacagt dbSNP:757946805
1762 1762 a, c dbSNP:35727210
1763 1763 a, c dbSNP:751795008
1764 1764 a, g dbSNP:780356070
1765 1765 a, g dbSNP:758783285
1766 1766 a, t dbSNP:750848278
1767 1767 a, t dbSNP:121907922
1779 1779 -, g dbSNP:752539155
1787 1787 -, aaa dbSNP:760883786
1788 1788 -, aa dbSNP:759391101
1789 1789 -, a, aa, aaa dbSNP:766383236
1789 1789 -, a dbSNP:780753075
1795 1795 a, g dbSNP:765630322
1801 1801 a, t dbSNP:186495466
1802 1802 c, t dbSNP:753270350
1805 1805 -, t dbSNP:772347211
1815 1815 c, g dbSNP:763707989
1826 1826 a, c, t dbSNP:775315951
1836 1836 a, g dbSNP:781672782
1853 1853 a, g dbSNP:577492950
1854 1854 a, g dbSNP:759234423
1858 1858 a, c dbSNP:572377074
1872 1872 g, t dbSNP:201999673
1873 1873 c, g, t dbSNP:765087371
1879 1879 c, t dbSNP:749305106
1880 1880 a, g dbSNP:755533758
1892 1892 c, t dbSNP:375196435
1894 1894 a, g dbSNP:747184562
1902 1902 c, g dbSNP:754742074
1906 1906 a, g dbSNP:780225831
1917 1917 a, g dbSNP:558806590
1955 1955 a, g dbSNP:758658941
1959 1959 a, g dbSNP:750748406
1981 1981 a, g dbSNP:539058643
1987 1987 a, g dbSNP:779388577
1994 1994 c, t dbSNP:753595935
2016 2016 a, g, t dbSNP:568482434
2028 2028 a, g dbSNP:754370657
2060 2060 a, c dbSNP:150518775
2075 2075 a, t dbSNP:752052976
2103 2103 c, t dbSNP:766518284
2124 2124 a, t dbSNP:774392481
2124 2124 -, t dbSNP:200391530
2125 2125 a, t dbSNP:774473337
2129 2129 -, a dbSNP:553690261
2185 2185 c, t dbSNP:55756603
2212 2212 c, t dbSNP:568060956
2236 2236 a, g dbSNP:546803677
2244 2244 c, g dbSNP:534503925
2261 2261 a, g dbSNP:762915630
2371 2371 -, a dbSNP:369801879
2371 2371 a, g dbSNP:3026394
2409 2409 a, g dbSNP:181456283
2430 2430 g, t dbSNP:570775936
2454 2454 c, t dbSNP:768630698
2462 2462 a, t dbSNP:750692692
2531 2531 a, g dbSNP:368683181
2551 2551 a, g dbSNP:189275679
2558 2558 c, t dbSNP:763448163
2609 2609 c, t dbSNP:530931929
2610 2610 a, g dbSNP:115045926
2645 2645 a, g dbSNP:185996251
2659 2659 a, g dbSNP:530259403
2664 2664 c, g dbSNP:559569624
2831 2831 a, g dbSNP:117590302
2836 2836 c, t dbSNP:11827725
2847 2847 g, t dbSNP:558685564
2881 2881 c, t dbSNP:770219222
2952 2952 a, t dbSNP:1506
2960 2960 c, g dbSNP:556014842
3009 3009 c, t dbSNP:565256070
3049 3049 c, t dbSNP:543660269
3055 3055 a, t dbSNP:576321279
3069 3069 c, t dbSNP:760564578
3162 3162 a, c dbSNP:776894983
3204 3204 a, g dbSNP:138035131
3229 3229 g, t dbSNP:770591510
3246 3246 c, t dbSNP:181818313
3311 3311 a, g dbSNP:777414955
3347 3347 g, t dbSNP:574512131
3370 3370 a, t dbSNP:771638843
3372 3372 a, t dbSNP:189545730
3385 3385 c, t dbSNP:185022053
3497 3497 c, t dbSNP:747672883
3522 3522 c, t dbSNP:771990073
3532 3532 a, t dbSNP:778860014
3547 3547 a, g dbSNP:3026395
3554 3554 a, g dbSNP:192091385
3618 3618 a, c dbSNP:754902401
3624 3624 c, g dbSNP:753637547
3654 3654 c, t dbSNP:759587253
3706 3706 a, g dbSNP:189220045
3755 3755 a, g dbSNP:552510355
3825 3825 a, g dbSNP:537383377
3826 3826 c, t dbSNP:757458670
3877 3877 g, t dbSNP:370447209
3927 3927 a, c, t dbSNP:3026396
3928 3928 a, g dbSNP:12421026
3958 3958 c, t dbSNP:530026066
4006 4006 g, t dbSNP:73477658
4049 4049 a, t dbSNP:547544629
4069 4069 a, g dbSNP:371522277
4073 4073 a, g dbSNP:73477656
4139 4139 c, t dbSNP:764306805
4172 4172 c, g dbSNP:558820911
4180 4180 a, g dbSNP:662702
4184 4184 g, t dbSNP:79739975
4203 4203 c, g dbSNP:561409660
4251 4251 c, t dbSNP:541826815
4261 4261 c, t dbSNP:574324676
4274 4274 c, t dbSNP:3026397
4320 4320 a, g dbSNP:760005375
4327 4327 a, g dbSNP:141344418
4351 4351 a, g dbSNP:771263641
4376 4376 -, g dbSNP:529299099
4433 4433 c, t dbSNP:577003141
4463 4463 a, t dbSNP:558836571
4465 4465 a, t dbSNP:138881442
4475 4475 c, t dbSNP:3026398
4487 4487 c, t dbSNP:554531111
4546 4546 c, t dbSNP:184858724
4565 4565 c, t dbSNP:565884645
4571 4571 a, c dbSNP:550826509
4572 4572 a, t dbSNP:771871697
4575 4575 a, g dbSNP:547876359
4589 4589 c, t dbSNP:532518402
4602 4602 c, t dbSNP:571388508
4634 4634 a, g dbSNP:747619738
4650 4650 c, t dbSNP:143185259
4658 4658 a, t dbSNP:111506276
4659 4659 a, t dbSNP:111584109
4660 4660 -, attt dbSNP:397795797
4660 4660 a, t dbSNP:112863817
4663 4663 -, attt dbSNP:371844951
4664 4664 -, att, attt dbSNP:10623053
4665 4665 a, t dbSNP:375367578
4669 4669 c, t dbSNP:542906080
4685 4685 g, t dbSNP:372093736
4687 4687 c, t dbSNP:758752416
4708 4708 c, t dbSNP:778326111
4745 4745 a, c dbSNP:192709453
4753 4753 a, g dbSNP:3026399
4795 4795 a, g dbSNP:541022955
4834 4834 a, c dbSNP:577038770
4847 4847 a, g dbSNP:145696496
4848 4848 c, t dbSNP:558669321
4877 4877 c, t dbSNP:543657720
4936 4936 c, t dbSNP:187705792
4970 4970 a, g dbSNP:608293
4977 4977 c, t dbSNP:182664507
5012 5012 a, t dbSNP:200326314
5013 5013 -, tttt dbSNP:397768344
5013 5013 c, t dbSNP:202143838
5014 5014 -, tttt dbSNP:34919147
5015 5015 a, t dbSNP:3026400
5016 5016 -, ttat, tttt dbSNP:138907979
5079 5079 c, g dbSNP:755840816
5086 5086 a, g dbSNP:371438311
5095 5095 c, t dbSNP:750233565
5163 5163 a, c dbSNP:777926361
5196 5196 c, t dbSNP:191399467
5276 5276 a, g dbSNP:538635671
5295 5295 a, c dbSNP:758654517
5316 5316 a, g dbSNP:752794595
5358 5358 a, g dbSNP:765287348
5438 5438 c, t dbSNP:149777109
5453 5453 a, t dbSNP:754228015
5462 5462 a, g dbSNP:549835579
5504 5504 -, ca dbSNP:141022497
5510 5510 a, g dbSNP:531792461
5512 5512 c, t dbSNP:767004336
5514 5514 c, t dbSNP:567720234
5579 5579 a, g dbSNP:373404895
5597 5597 a, t dbSNP:549546285
5637 5637 -, aa dbSNP:747553297
5650 5650 c, t dbSNP:187714007
5653 5653 g, t dbSNP:183433948
5726 5726 a, g dbSNP:3026401
5734 5734 c, t dbSNP:190491652
5772 5772 a, t dbSNP:560550871
5829 5829 a, g dbSNP:200059324
5830 5830 g, t dbSNP:767247431
5841 5841 a, c dbSNP:560212635
5862 5862 a, g dbSNP:765351129
5891 5891 a, c dbSNP:757623571
5894 5894 c, t dbSNP:564992218
5954 5954 a, g dbSNP:543493095
6002 6002 a, g dbSNP:548846660
6008 6008 a, g dbSNP:374309046
6042 6042 a, g dbSNP:761607482
6045 6045 a, g dbSNP:541788322
6064 6064 c, g dbSNP:16922475
6065 6065 c, t dbSNP:186769968
6087 6087 c, g dbSNP:542787301
6097 6097 a, g dbSNP:572287003
6137 6137 a, c, g dbSNP:544117348
6138 6138 c, g dbSNP:183115097
6149 6149 a, t dbSNP:748836383
6157 6157 -, aa dbSNP:777790874
6205 6205 c, t dbSNP:538672567
6230 6230 g, t dbSNP:775235098
6268 6268 c, t dbSNP:769748376
6301 6301 c, t dbSNP:745626044
6341 6341 a, t dbSNP:577569048
6355 6355 c, t dbSNP:191251943
6367 6367 g, t dbSNP:185968715
6395 6395 a, c dbSNP:140971065
6418 6418 a, g dbSNP:563195323
6419 6419 a, c dbSNP:781008488
6464 6464 c, g dbSNP:180780893
6490 6490 c, t dbSNP:544178082
6526 6526 a, g dbSNP:758601497
6532 6532 c, t dbSNP:534387233
6545 6545 c, g dbSNP:556214355
6547 6547 a, g dbSNP:567186138
6553 6553 -, a dbSNP:35674517
6610 6610 c, t dbSNP:188417347
6636 6636 c, t dbSNP:532145324
6639 6639 c, t dbSNP:564825208
6714 6714 a, g dbSNP:549791945
6764 6764 c, t dbSNP:531351390
6767 6767 c, t dbSNP:759356480
6774 6774 c, g dbSNP:748381549
6797 6797 c, t dbSNP:543950317
6828 6828 a, c dbSNP:774374777
6876 6876 a, g dbSNP:146579778
6906 6906 c, t dbSNP:754952455

Target ORF information:

RefSeq Version NM_001604
Organism Homo sapiens (human)
Definition Homo sapiens paired box 6 (PAX6), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_001604

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GACCCATGCA GATGCAAAAG TCCAAGTGCT GGACAATCAA
AACGTGTCCA ACGGATGTGT GAGTAAAATT CTGGGCAGGT ATTACGAGAC TGGCTCCATC
AGACCCAGGG CAATCGGTGG TAGTAAACCG AGAGTAGCGA CTCCAGAAGT TGTAAGCAAA
ATAGCCCAGT ATAAGCGGGA GTGCCCGTCC ATCTTTGCTT GGGAAATCCG AGACAGATTA
CTGTCCGAGG GGGTCTGTAC CAACGATAAC ATACCAAGCG TGTCATCAAT AAACAGAGTT
CTTCGCAACC TGGCTAGCGA AAAGCAACAG ATGGGCGCAG ACGGCATGTA TGATAAACTA
AGGATGTTGA ACGGGCAGAC CGGAAGCTGG GGCACCCGCC CTGGTTGGTA TCCGGGGACT
TCGGTGCCAG GGCAACCTAC GCAAGATGGC TGCCAGCAAC AGGAAGGAGG GGGAGAGAAT
ACCAACTCCA TCAGTTCCAA CGGAGAAGAT TCAGATGAGG CTCAAATGCG ACTTCAGCTG
AAGCGGAAGC TGCAAAGAAA TAGAACATCC TTTACCCAAG AGCAAATTGA GGCCCTGGAG
AAAGAGTTTG AGAGAACCCA TTATCCAGAT GTGTTTGCCC GAGAAAGACT AGCAGCCAAA
ATAGATCTAC CTGAAGCAAG AATACAGGTA TGGTTTTCTA ATCGAAGGGC CAAATGGAGA
AGAGAAGAAA AACTGAGGAA TCAGAGAAGA CAGGCCAGCA ACACACCTAG TCATATTCCT
ATCAGCAGTA GTTTCAGCAC CAGTGTCTAC CAACCAATTC CACAACCCAC CACACCGGTT
TCCTCCTTCA CATCTGGCTC CATGTTGGGC CGAACAGACA CAGCCCTCAC AAACACCTAC
AGCGCTCTGC CGCCTATGCC CAGCTTCACC ATGGCAAATA ACCTGCCTAT GCAACCCCCA
GTCCCCAGCC AGACCTCCTC ATACTCCTGC ATGCTGCCCA CCAGCCCTTC GGTGAATGGG
CGGAGTTATG ATACCTACAC CCCCCCACAT ATGCAGACAC ACATGAACAG TCAGCCAATG
GGCACCTCGG GCACCACTTC AACAGGACTC ATTTCCCCTG GTGTGTCAGT TCCAGTTCAA
GTTCCCGGAA GTGAACCTGA TATGTCTCAA TACTGGCCAA GATTACAGTTA A

The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.


CloneID OHu20414D
Sequence Information ORF Nucleotide Sequence (Length: 1269bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 08-JUL-2015
Organism Homo sapiens (human)
Product paired box protein Pax-6 isoform a
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA078958.1, BC011953.1, Z83307.1 and BP394576.1. Summary: This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. Transcript Variant:This variant (6) uses an alternate splice site in the 5' UTR compared to variant 1. It initiates from the P1 promoter. Variants 1, 3, 6 and 7 encode the same isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC011953.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GGTGTCCAAC GGATGTGTGA GTAAAATTCT GGGCAGGTAT
TACGAGACTG GCTCCATCAG ACCCAGGGCA ATCGGTGGTA GTAAACCGAG AGTAGCGACT
CCAGAAGTTG TAAGCAAAAT AGCCCAGTAT AAGCGGGAGT GCCCGTCCAT CTTTGCTTGG
GAAATCCGAG ACAGATTACT GTCCGAGGGG GTCTGTACCA ACGATAACAT ACCAAGCGTG
TCATCAATAA ACAGAGTTCT TCGCAACCTG GCTAGCGAAA AGCAACAGAT GGGCGCAGAC
GGCATGTATG ATAAACTAAG GATGTTGAAC GGGCAGACCG GAAGCTGGGG CACCCGCCCT
GGTTGGTATC CGGGGACTTC GGTGCCAGGG CAACCTACGC AAGATGGCTG CCAGCAACAG
GAAGGAGGGG GAGAGAATAC CAACTCCATC AGTTCCAACG GAGAAGATTC AGATGAGGCT
CAAATGCGAC TTCAGCTGAA GCGGAAGCTG CAAAGAAATA GAACATCCTT TACCCAAGAG
CAAATTGAGG CCCTGGAGAA AGAGTTTGAG AGAACCCATT ATCCAGATGT GTTTGCCCGA
GAAAGACTAG CAGCCAAAAT AGATCTACCT GAAGCAAGAA TACAGGTATG GTTTTCTAAT
CGAAGGGCCA AATGGAGAAG AGAAGAAAAA CTGAGGAATC AGAGAAGACA GGCCAGCAAC
ACACCTAGTC ATATTCCTAT CAGCAGTAGT TTCAGCACCA GTGTCTACCA ACCAATTCCA
CAACCCACCA CACCGGTTTC CTCCTTCACA TCTGGCTCCA TGTTGGGCCG AACAGACACA
GCCCTCACAA ACACCTACAG CGCTCTGCCG CCTATGCCCA GCTTCACCAT GGCAAATAAC
CTGCCTATGC AACCCCCAGT CCCCAGCCAG ACCTCCTCAT ACTCCTGCAT GCTGCCCACC
AGCCCTTCGG TGAATGGGCG GAGTTATGAT ACCTACACCC CCCCACATAT GCAGACACAC
ATGAACAGTC AGCCAATGGG CACCTCGGGC ACCACTTCAA CAGGACTCAT TTCCCCTGGT
GTGTCAGTTC CAGTTCAAGT TCCCGGAAGT GAACCTGATA TGTCTCAATA CTGGCCAAGA
TTACAGTAA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_001245393.1
CDS458..1726
Misc Feature(1)20..20(+)
Misc Feature(2)341..343(+)
Misc Feature(3)470..850(+)
Misc Feature(4)482..841(+)
Misc Feature(5)533..841(+)
Misc Feature(6)1091..1264(+)
Misc Feature(7)1091..1258(+)
Misc Feature(8)1094..1246(+)
Exon (1)1..141
Gene:PAX6
Gene Synonym:
Exon (2)142..329
Gene:PAX6
Gene Synonym:
Exon (3)330..406
Gene:PAX6
Gene Synonym:
Exon (4)407..467
Gene:PAX6
Gene Synonym:
Exon (5)468..598
Gene:PAX6
Gene Synonym:
Exon (6)599..814
Gene:PAX6
Gene Synonym:
Exon (7)815..980
Gene:PAX6
Gene Synonym:
Exon (8)981..1139
Gene:PAX6
Gene Synonym:
Exon (9)1140..1222
Gene:PAX6
Gene Synonym:
Exon (10)1223..1373
Gene:PAX6
Gene Synonym:
Exon (11)1374..1489
Gene:PAX6
Gene Synonym:
Exon (12)1490..1640
Gene:PAX6
Gene Synonym:
Exon (13)1641..6868
Gene:PAX6
Gene Synonym:
Translation
Position Chain Variation Link
41 41 c, g dbSNP:758692972
84 84 a, c dbSNP:537507423
94 94 c, g dbSNP:781319931
163 163 a, c dbSNP:368691530
235 235 c, t dbSNP:547667102
278 278 a, g dbSNP:75563367
311 311 a, g dbSNP:192375760
318 318 a, t dbSNP:763579166
332 332 a, g dbSNP:769767377
345 345 a, t dbSNP:188423337
351 351 c, t dbSNP:111270711
353 353 c, t dbSNP:772347668
408 408 a, g dbSNP:750607024
419 419 a, g, t dbSNP:370232963
427 427 c, t dbSNP:754173950
433 433 c, t dbSNP:376974874
446 446 a, g dbSNP:373532310
453 453 a, c dbSNP:761226699
490 490 c, t dbSNP:772746456
493 493 c, t dbSNP:769593111
503 503 -, g dbSNP:398123296
526 526 c, t dbSNP:747921005
529 529 c, t dbSNP:776541044
533 533 c, g dbSNP:121907913
545 545 a, g dbSNP:768554144
547 547 a, g dbSNP:747019294
550 550 a, g dbSNP:778947003
569 569 c, t dbSNP:397514640
580 580 c, t dbSNP:757338362
587 587 a, c dbSNP:141873759
593 593 c, g dbSNP:78692805
595 595 g, t dbSNP:777885823
607 607 a, c, t dbSNP:727504064
609 609 g, t dbSNP:587778874
631 631 c, t dbSNP:763807196
640 640 c, t dbSNP:760490431
648 648 g, t dbSNP:121907920
656 656 a, c dbSNP:775355156
658 658 a, g dbSNP:771974160
659 659 c, t dbSNP:121907923
671 671 a, g dbSNP:759557055
691 691 a, g dbSNP:750195797
694 694 a, g dbSNP:538444180
704 704 a, g dbSNP:372222637
713 713 a, g dbSNP:769974302
725 725 c, t dbSNP:748252607
729 729 a, g dbSNP:781597459
732 732 a, g dbSNP:769095184
738 738 a, g dbSNP:747357950
741 741 c, g, t dbSNP:758828833
742 742 a, g dbSNP:571551224
764 764 c, t dbSNP:121907914
771 771 g, t dbSNP:746448834
776 776 c, t dbSNP:778232245
781 781 c, t dbSNP:756791622
784 784 a, g dbSNP:114384476
791 791 c, t dbSNP:112203531
794 794 a, g dbSNP:763754697
798 798 a, g dbSNP:755810074
806 806 a, t dbSNP:752455847
814 814 a, c dbSNP:121907928
820 820 a, g dbSNP:760926425
826 826 a, t dbSNP:775863667
834 834 a, t dbSNP:121907919
839 839 c, t dbSNP:121907918
850 850 c, t dbSNP:374436481
853 853 c, t dbSNP:146769256
863 863 c, t dbSNP:121907912
866 866 a, g dbSNP:774624136
868 868 a, g dbSNP:371018133
877 877 c, t dbSNP:1800427
878 878 a, g dbSNP:777250095
880 880 c, g dbSNP:139803630
885 885 a, g dbSNP:201983312
907 907 c, t dbSNP:780920168
914 914 a, t dbSNP:754636793
915 915 c, g dbSNP:751339399
916 916 c, t dbSNP:201200280
917 917 a, g dbSNP:758400541
927 927 g, t dbSNP:750403446
932 932 c, t dbSNP:372143889
941 941 g, t dbSNP:529518261
949 949 a, g dbSNP:764207199
951 951 a, g dbSNP:760865122
952 952 c, g dbSNP:374226064
953 953 a, t dbSNP:141021880
957 957 c, t dbSNP:151086737
960 960 c, t dbSNP:774770770
971 971 -, cctacgcaa dbSNP:747077748
976 976 a, g dbSNP:771257263
981 981 a, g dbSNP:751742821
998 998 a, g dbSNP:138803897
1003 1003 a, c dbSNP:766664478
1005 1005 c, g, t dbSNP:541894561
1006 1006 a, g dbSNP:770253438
1018 1018 c, g dbSNP:200080139
1024 1024 a, c dbSNP:776189526
1024 1024 -, c dbSNP:773606401
1036 1036 c, t dbSNP:367589686
1037 1037 a, g dbSNP:374396492
1045 1045 c, g, t dbSNP:3026383
1056 1056 c, t dbSNP:771949142
1064 1064 c, t dbSNP:121907916
1070 1070 c, t dbSNP:121907924
1071 1071 a, c dbSNP:745639948
1073 1073 c, t dbSNP:778895282
1079 1079 c, t dbSNP:757259413
1080 1080 a, g dbSNP:749244084
1105 1105 c, t dbSNP:373715028
1114 1114 a, g dbSNP:539046948
1117 1117 a, g dbSNP:755018027
1120 1120 a, g dbSNP:751765079
1132 1132 a, g dbSNP:766564648
1156 1156 c, t dbSNP:758603708
1162 1162 a, t dbSNP:773995611
1168 1168 a, g dbSNP:145329506
1175 1175 c, t dbSNP:121907917
1177 1177 a, g dbSNP:200916868
1182 1182 c, g dbSNP:121907927
1183 1183 a, g dbSNP:757591036
1197 1197 c, t dbSNP:754317483
1213 1213 a, g dbSNP:764490432
1223 1223 a, g dbSNP:779126789
1228 1228 a, g dbSNP:121907929
1230 1230 c, t dbSNP:121907925
1256 1256 a, g dbSNP:201846044
1257 1257 g, t dbSNP:199610944
1261 1261 a, g dbSNP:200764930
1265 1265 a, g dbSNP:201439078
1288 1288 a, g dbSNP:149053004
1315 1315 c, t dbSNP:200631911
1318 1318 c, t dbSNP:754125688
1323 1323 c, g dbSNP:778271366
1324 1324 c, t dbSNP:202154006
1333 1333 c, t dbSNP:753272015
1366 1366 c, t dbSNP:767071687
1371 1371 c, t dbSNP:759150602
1372 1372 a, g dbSNP:146433004
1375 1375 c, t dbSNP:764898561
1379 1379 c, t dbSNP:761616236
1387 1387 a, t dbSNP:779631884
1393 1393 c, t dbSNP:115833025
1400 1400 c, t dbSNP:373147550
1407 1407 a, g dbSNP:75572362
1408 1408 a, g dbSNP:755795666
1414 1414 c, g, t dbSNP:184589894
1419 1419 a, c, g dbSNP:773515612
1426 1426 a, g dbSNP:770236522
1432 1432 c, t dbSNP:371568746
1434 1434 a, g dbSNP:543260074
1435 1435 c, g dbSNP:786205467
1438 1438 c, t dbSNP:139416026
1446 1446 c, t dbSNP:755528147
1447 1447 a, g dbSNP:146261351
1451 1451 a, t dbSNP:779363005
1456 1456 c, t dbSNP:757953783
1458 1458 c, g dbSNP:749992296
1459 1459 c, g dbSNP:764917402
1466 1466 a, g dbSNP:756940209
1474 1474 a, t dbSNP:753629975
1477 1477 c, t dbSNP:763938604
1481 1481 c, t dbSNP:760551416
1493 1493 c, g dbSNP:780973082
1503 1503 c, g dbSNP:754759536
1514 1514 g, t dbSNP:373661718
1515 1515 c, g dbSNP:121907915
1540 1540 -, c dbSNP:34615233
1546 1546 a, g dbSNP:369447790
1552 1552 c, t dbSNP:200959420
1557 1557 a, g dbSNP:780115865
1569 1569 c, t dbSNP:780842357
1574 1574 a, g dbSNP:758447642
1575 1575 c, g dbSNP:201690439
1579 1579 c, t dbSNP:764134540
1581 1581 -, c dbSNP:756801119
1581 1581 a, c dbSNP:200015827
1586 1586 a, t dbSNP:752871485
1594 1594 a, c, t dbSNP:143477661
1596 1596 a, g dbSNP:774747652
1609 1609 a, g dbSNP:766842413
1614 1614 c, t dbSNP:763519655
1615 1615 a, g dbSNP:772696878
1616 1616 c, g dbSNP:769190973
1628 1628 a, g dbSNP:121907926
1645 1645 a, c dbSNP:776244636
1651 1651 c, t dbSNP:78290542
1657 1657 g, t dbSNP:372956285
1681 1681 a, c, t dbSNP:369180308
1691 1691 c, t dbSNP:745762788
1696 1696 c, t dbSNP:778743004
1697 1697 a, g dbSNP:541260494
1698 1698 c, t dbSNP:748146547
1701 1701 c, g dbSNP:781399901
1716 1716 a, g dbSNP:755181141
1718 1718 -, ttacagt dbSNP:757946805
1720 1720 a, c dbSNP:35727210
1721 1721 a, c dbSNP:751795008
1722 1722 a, g dbSNP:780356070
1723 1723 a, g dbSNP:758783285
1724 1724 a, t dbSNP:750848278
1725 1725 a, t dbSNP:121907922
1737 1737 -, g dbSNP:752539155
1745 1745 -, aaa dbSNP:760883786
1746 1746 -, aa dbSNP:759391101
1747 1747 -, a, aa, aaa dbSNP:766383236
1747 1747 -, a dbSNP:780753075
1753 1753 a, g dbSNP:765630322
1759 1759 a, t dbSNP:186495466
1760 1760 c, t dbSNP:753270350
1763 1763 -, t dbSNP:772347211
1773 1773 c, g dbSNP:763707989
1784 1784 a, c, t dbSNP:775315951
1794 1794 a, g dbSNP:781672782
1811 1811 a, g dbSNP:577492950
1812 1812 a, g dbSNP:759234423
1816 1816 a, c dbSNP:572377074
1830 1830 g, t dbSNP:201999673
1831 1831 c, g, t dbSNP:765087371
1837 1837 c, t dbSNP:749305106
1838 1838 a, g dbSNP:755533758
1850 1850 c, t dbSNP:375196435
1852 1852 a, g dbSNP:747184562
1860 1860 c, g dbSNP:754742074
1864 1864 a, g dbSNP:780225831
1875 1875 a, g dbSNP:558806590
1913 1913 a, g dbSNP:758658941
1917 1917 a, g dbSNP:750748406
1939 1939 a, g dbSNP:539058643
1945 1945 a, g dbSNP:779388577
1952 1952 c, t dbSNP:753595935
1974 1974 a, g, t dbSNP:568482434
1986 1986 a, g dbSNP:754370657
2018 2018 a, c dbSNP:150518775
2033 2033 a, t dbSNP:752052976
2061 2061 c, t dbSNP:766518284
2082 2082 a, t dbSNP:774392481
2082 2082 -, t dbSNP:200391530
2083 2083 a, t dbSNP:774473337
2087 2087 -, a dbSNP:553690261
2143 2143 c, t dbSNP:55756603
2170 2170 c, t dbSNP:568060956
2194 2194 a, g dbSNP:546803677
2202 2202 c, g dbSNP:534503925
2219 2219 a, g dbSNP:762915630
2329 2329 -, a dbSNP:369801879
2329 2329 a, g dbSNP:3026394
2367 2367 a, g dbSNP:181456283
2388 2388 g, t dbSNP:570775936
2412 2412 c, t dbSNP:768630698
2420 2420 a, t dbSNP:750692692
2489 2489 a, g dbSNP:368683181
2509 2509 a, g dbSNP:189275679
2516 2516 c, t dbSNP:763448163
2567 2567 c, t dbSNP:530931929
2568 2568 a, g dbSNP:115045926
2603 2603 a, g dbSNP:185996251
2617 2617 a, g dbSNP:530259403
2622 2622 c, g dbSNP:559569624
2789 2789 a, g dbSNP:117590302
2794 2794 c, t dbSNP:11827725
2805 2805 g, t dbSNP:558685564
2839 2839 c, t dbSNP:770219222
2910 2910 a, t dbSNP:1506
2918 2918 c, g dbSNP:556014842
2967 2967 c, t dbSNP:565256070
3007 3007 c, t dbSNP:543660269
3013 3013 a, t dbSNP:576321279
3027 3027 c, t dbSNP:760564578
3120 3120 a, c dbSNP:776894983
3162 3162 a, g dbSNP:138035131
3187 3187 g, t dbSNP:770591510
3204 3204 c, t dbSNP:181818313
3269 3269 a, g dbSNP:777414955
3305 3305 g, t dbSNP:574512131
3328 3328 a, t dbSNP:771638843
3330 3330 a, t dbSNP:189545730
3343 3343 c, t dbSNP:185022053
3455 3455 c, t dbSNP:747672883
3480 3480 c, t dbSNP:771990073
3490 3490 a, t dbSNP:778860014
3505 3505 a, g dbSNP:3026395
3512 3512 a, g dbSNP:192091385
3576 3576 a, c dbSNP:754902401
3582 3582 c, g dbSNP:753637547
3612 3612 c, t dbSNP:759587253
3664 3664 a, g dbSNP:189220045
3713 3713 a, g dbSNP:552510355
3783 3783 a, g dbSNP:537383377
3784 3784 c, t dbSNP:757458670
3835 3835 g, t dbSNP:370447209
3885 3885 a, c, t dbSNP:3026396
3886 3886 a, g dbSNP:12421026
3916 3916 c, t dbSNP:530026066
3964 3964 g, t dbSNP:73477658
4007 4007 a, t dbSNP:547544629
4027 4027 a, g dbSNP:371522277
4031 4031 a, g dbSNP:73477656
4097 4097 c, t dbSNP:764306805
4130 4130 c, g dbSNP:558820911
4138 4138 a, g dbSNP:662702
4142 4142 g, t dbSNP:79739975
4161 4161 c, g dbSNP:561409660
4209 4209 c, t dbSNP:541826815
4219 4219 c, t dbSNP:574324676
4232 4232 c, t dbSNP:3026397
4278 4278 a, g dbSNP:760005375
4285 4285 a, g dbSNP:141344418
4309 4309 a, g dbSNP:771263641
4334 4334 -, g dbSNP:529299099
4391 4391 c, t dbSNP:577003141
4421 4421 a, t dbSNP:558836571
4423 4423 a, t dbSNP:138881442
4433 4433 c, t dbSNP:3026398
4445 4445 c, t dbSNP:554531111
4504 4504 c, t dbSNP:184858724
4523 4523 c, t dbSNP:565884645
4529 4529 a, c dbSNP:550826509
4530 4530 a, t dbSNP:771871697
4533 4533 a, g dbSNP:547876359
4547 4547 c, t dbSNP:532518402
4560 4560 c, t dbSNP:571388508
4592 4592 a, g dbSNP:747619738
4608 4608 c, t dbSNP:143185259
4616 4616 a, t dbSNP:111506276
4617 4617 a, t dbSNP:111584109
4618 4618 -, attt dbSNP:397795797
4618 4618 a, t dbSNP:112863817
4621 4621 -, attt dbSNP:371844951
4622 4622 -, att, attt dbSNP:10623053
4623 4623 a, t dbSNP:375367578
4627 4627 c, t dbSNP:542906080
4643 4643 g, t dbSNP:372093736
4645 4645 c, t dbSNP:758752416
4666 4666 c, t dbSNP:778326111
4703 4703 a, c dbSNP:192709453
4711 4711 a, g dbSNP:3026399
4753 4753 a, g dbSNP:541022955
4792 4792 a, c dbSNP:577038770
4805 4805 a, g dbSNP:145696496
4806 4806 c, t dbSNP:558669321
4835 4835 c, t dbSNP:543657720
4894 4894 c, t dbSNP:187705792
4928 4928 a, g dbSNP:608293
4935 4935 c, t dbSNP:182664507
4970 4970 a, t dbSNP:200326314
4971 4971 -, tttt dbSNP:397768344
4971 4971 c, t dbSNP:202143838
4972 4972 -, tttt dbSNP:34919147
4973 4973 a, t dbSNP:3026400
4974 4974 -, ttat, tttt dbSNP:138907979
5037 5037 c, g dbSNP:755840816
5044 5044 a, g dbSNP:371438311
5053 5053 c, t dbSNP:750233565
5121 5121 a, c dbSNP:777926361
5154 5154 c, t dbSNP:191399467
5234 5234 a, g dbSNP:538635671
5253 5253 a, c dbSNP:758654517
5274 5274 a, g dbSNP:752794595
5316 5316 a, g dbSNP:765287348
5396 5396 c, t dbSNP:149777109
5411 5411 a, t dbSNP:754228015
5420 5420 a, g dbSNP:549835579
5462 5462 -, ca dbSNP:141022497
5468 5468 a, g dbSNP:531792461
5470 5470 c, t dbSNP:767004336
5472 5472 c, t dbSNP:567720234
5537 5537 a, g dbSNP:373404895
5555 5555 a, t dbSNP:549546285
5595 5595 -, aa dbSNP:747553297
5608 5608 c, t dbSNP:187714007
5611 5611 g, t dbSNP:183433948
5684 5684 a, g dbSNP:3026401
5692 5692 c, t dbSNP:190491652
5730 5730 a, t dbSNP:560550871
5787 5787 a, g dbSNP:200059324
5788 5788 g, t dbSNP:767247431
5799 5799 a, c dbSNP:560212635
5820 5820 a, g dbSNP:765351129
5849 5849 a, c dbSNP:757623571
5852 5852 c, t dbSNP:564992218
5912 5912 a, g dbSNP:543493095
5960 5960 a, g dbSNP:548846660
5966 5966 a, g dbSNP:374309046
6000 6000 a, g dbSNP:761607482
6003 6003 a, g dbSNP:541788322
6022 6022 c, g dbSNP:16922475
6023 6023 c, t dbSNP:186769968
6045 6045 c, g dbSNP:542787301
6055 6055 a, g dbSNP:572287003
6095 6095 a, c, g dbSNP:544117348
6096 6096 c, g dbSNP:183115097
6107 6107 a, t dbSNP:748836383
6115 6115 -, aa dbSNP:777790874
6163 6163 c, t dbSNP:538672567
6188 6188 g, t dbSNP:775235098
6226 6226 c, t dbSNP:769748376
6259 6259 c, t dbSNP:745626044
6299 6299 a, t dbSNP:577569048
6313 6313 c, t dbSNP:191251943
6325 6325 g, t dbSNP:185968715
6353 6353 a, c dbSNP:140971065
6376 6376 a, g dbSNP:563195323
6377 6377 a, c dbSNP:781008488
6422 6422 c, g dbSNP:180780893
6448 6448 c, t dbSNP:544178082
6484 6484 a, g dbSNP:758601497
6490 6490 c, t dbSNP:534387233
6503 6503 c, g dbSNP:556214355
6505 6505 a, g dbSNP:567186138
6511 6511 -, a dbSNP:35674517
6568 6568 c, t dbSNP:188417347
6594 6594 c, t dbSNP:532145324
6597 6597 c, t dbSNP:564825208
6672 6672 a, g dbSNP:549791945
6722 6722 c, t dbSNP:531351390
6725 6725 c, t dbSNP:759356480
6732 6732 c, g dbSNP:748381549
6755 6755 c, t dbSNP:543950317
6786 6786 a, c dbSNP:774374777
6834 6834 a, g dbSNP:146579778
6864 6864 c, t dbSNP:754952455

Target ORF information:

RefSeq Version NM_001258464
Organism Homo sapiens (human)
Definition Homo sapiens paired box 6 (PAX6), transcript variant 6, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_001258464

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GGTGTCCAAC GGATGTGTGA GTAAAATTCT GGGCAGGTAT
TACGAGACTG GCTCCATCAG ACCCAGGGCA ATCGGTGGTA GTAAACCGAG AGTAGCGACT
CCAGAAGTTG TAAGCAAAAT AGCCCAGTAT AAGCGGGAGT GCCCGTCCAT CTTTGCTTGG
GAAATCCGAG ACAGATTACT GTCCGAGGGG GTCTGTACCA ACGATAACAT ACCAAGCGTG
TCATCAATAA ACAGAGTTCT TCGCAACCTG GCTAGCGAAA AGCAACAGAT GGGCGCAGAC
GGCATGTATG ATAAACTAAG GATGTTGAAC GGGCAGACCG GAAGCTGGGG CACCCGCCCT
GGTTGGTATC CGGGGACTTC GGTGCCAGGG CAACCTACGC AAGATGGCTG CCAGCAACAG
GAAGGAGGGG GAGAGAATAC CAACTCCATC AGTTCCAACG GAGAAGATTC AGATGAGGCT
CAAATGCGAC TTCAGCTGAA GCGGAAGCTG CAAAGAAATA GAACATCCTT TACCCAAGAG
CAAATTGAGG CCCTGGAGAA AGAGTTTGAG AGAACCCATT ATCCAGATGT GTTTGCCCGA
GAAAGACTAG CAGCCAAAAT AGATCTACCT GAAGCAAGAA TACAGGTATG GTTTTCTAAT
CGAAGGGCCA AATGGAGAAG AGAAGAAAAA CTGAGGAATC AGAGAAGACA GGCCAGCAAC
ACACCTAGTC ATATTCCTAT CAGCAGTAGT TTCAGCACCA GTGTCTACCA ACCAATTCCA
CAACCCACCA CACCGGTTTC CTCCTTCACA TCTGGCTCCA TGTTGGGCCG AACAGACACA
GCCCTCACAA ACACCTACAG CGCTCTGCCG CCTATGCCCA GCTTCACCAT GGCAAATAAC
CTGCCTATGC AACCCCCAGT CCCCAGCCAG ACCTCCTCAT ACTCCTGCAT GCTGCCCACC
AGCCCTTCGG TGAATGGGCG GAGTTATGAT ACCTACACCC CCCCACATAT GCAGACACAC
ATGAACAGTC AGCCAATGGG CACCTCGGGC ACCACTTCAA CAGGACTCAT TTCCCCTGGT
GTGTCAGTTC CAGTTCAAGT TCCCGGAAGT GAACCTGATA TGTCTCAATA CTGGCCAAGA
TTACAGTAA

The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.


CloneID OHu20414D
Sequence Information ORF Nucleotide Sequence (Length: 1269bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 10-JUL-2015
Organism Homo sapiens (human)
Product paired box protein Pax-6 isoform a
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA183294.1, AK314470.1, BM557761.1, BP394398.1, CA397536.1, BX114225.1, Z83307.1, BX089704.1, BM725029.1, BU072567.1, BE221553.1 and BP394576.1. Summary: This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. It initiates from the A (P0) promoter. Variants 1, 3, 6 and 7 encode the same isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK314470.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GGTGTCCAAC GGATGTGTGA GTAAAATTCT GGGCAGGTAT
TACGAGACTG GCTCCATCAG ACCCAGGGCA ATCGGTGGTA GTAAACCGAG AGTAGCGACT
CCAGAAGTTG TAAGCAAAAT AGCCCAGTAT AAGCGGGAGT GCCCGTCCAT CTTTGCTTGG
GAAATCCGAG ACAGATTACT GTCCGAGGGG GTCTGTACCA ACGATAACAT ACCAAGCGTG
TCATCAATAA ACAGAGTTCT TCGCAACCTG GCTAGCGAAA AGCAACAGAT GGGCGCAGAC
GGCATGTATG ATAAACTAAG GATGTTGAAC GGGCAGACCG GAAGCTGGGG CACCCGCCCT
GGTTGGTATC CGGGGACTTC GGTGCCAGGG CAACCTACGC AAGATGGCTG CCAGCAACAG
GAAGGAGGGG GAGAGAATAC CAACTCCATC AGTTCCAACG GAGAAGATTC AGATGAGGCT
CAAATGCGAC TTCAGCTGAA GCGGAAGCTG CAAAGAAATA GAACATCCTT TACCCAAGAG
CAAATTGAGG CCCTGGAGAA AGAGTTTGAG AGAACCCATT ATCCAGATGT GTTTGCCCGA
GAAAGACTAG CAGCCAAAAT AGATCTACCT GAAGCAAGAA TACAGGTATG GTTTTCTAAT
CGAAGGGCCA AATGGAGAAG AGAAGAAAAA CTGAGGAATC AGAGAAGACA GGCCAGCAAC
ACACCTAGTC ATATTCCTAT CAGCAGTAGT TTCAGCACCA GTGTCTACCA ACCAATTCCA
CAACCCACCA CACCGGTTTC CTCCTTCACA TCTGGCTCCA TGTTGGGCCG AACAGACACA
GCCCTCACAA ACACCTACAG CGCTCTGCCG CCTATGCCCA GCTTCACCAT GGCAAATAAC
CTGCCTATGC AACCCCCAGT CCCCAGCCAG ACCTCCTCAT ACTCCTGCAT GCTGCCCACC
AGCCCTTCGG TGAATGGGCG GAGTTATGAT ACCTACACCC CCCCACATAT GCAGACACAC
ATGAACAGTC AGCCAATGGG CACCTCGGGC ACCACTTCAA CAGGACTCAT TTCCCCTGGT
GTGTCAGTTC CAGTTCAAGT TCCCGGAAGT GAACCTGATA TGTCTCAATA CTGGCCAAGA
TTACAGTAA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_001121084.1
CDS470..1738
Misc Feature(1)353..355(+)
Misc Feature(2)482..862(+)
Misc Feature(3)494..853(+)
Misc Feature(4)545..853(+)
Misc Feature(5)1103..1276(+)
Misc Feature(6)1103..1270(+)
Misc Feature(7)1106..1258(+)
Exon (1)1..153
Gene:PAX6
Gene Synonym:
Exon (2)154..341
Gene:PAX6
Gene Synonym:
Exon (3)342..418
Gene:PAX6
Gene Synonym:
Exon (4)419..479
Gene:PAX6
Gene Synonym:
Exon (5)480..610
Gene:PAX6
Gene Synonym:
Exon (6)611..826
Gene:PAX6
Gene Synonym:
Exon (7)827..992
Gene:PAX6
Gene Synonym:
Exon (8)993..1151
Gene:PAX6
Gene Synonym:
Exon (9)1152..1234
Gene:PAX6
Gene Synonym:
Exon (10)1235..1385
Gene:PAX6
Gene Synonym:
Exon (11)1386..1501
Gene:PAX6
Gene Synonym:
Exon (12)1502..1652
Gene:PAX6
Gene Synonym:
Exon (13)1653..6880
Gene:PAX6
Gene Synonym:
Translation
Position Chain Variation Link
4 4 c, t dbSNP:754694267
16 16 a, c dbSNP:540825470
73 73 a, c dbSNP:548288782
78 78 a, c dbSNP:529720180
84 84 c, t dbSNP:559509987
175 175 a, c dbSNP:368691530
247 247 c, t dbSNP:547667102
290 290 a, g dbSNP:75563367
323 323 a, g dbSNP:192375760
330 330 a, t dbSNP:763579166
344 344 a, g dbSNP:769767377
357 357 a, t dbSNP:188423337
363 363 c, t dbSNP:111270711
365 365 c, t dbSNP:772347668
420 420 a, g dbSNP:750607024
431 431 a, g, t dbSNP:370232963
439 439 c, t dbSNP:754173950
445 445 c, t dbSNP:376974874
458 458 a, g dbSNP:373532310
465 465 a, c dbSNP:761226699
502 502 c, t dbSNP:772746456
505 505 c, t dbSNP:769593111
515 515 -, g dbSNP:398123296
538 538 c, t dbSNP:747921005
541 541 c, t dbSNP:776541044
545 545 c, g dbSNP:121907913
557 557 a, g dbSNP:768554144
559 559 a, g dbSNP:747019294
562 562 a, g dbSNP:778947003
581 581 c, t dbSNP:397514640
592 592 c, t dbSNP:757338362
599 599 a, c dbSNP:141873759
605 605 c, g dbSNP:78692805
607 607 g, t dbSNP:777885823
619 619 a, c, t dbSNP:727504064
621 621 g, t dbSNP:587778874
643 643 c, t dbSNP:763807196
652 652 c, t dbSNP:760490431
660 660 g, t dbSNP:121907920
668 668 a, c dbSNP:775355156
670 670 a, g dbSNP:771974160
671 671 c, t dbSNP:121907923
683 683 a, g dbSNP:759557055
703 703 a, g dbSNP:750195797
706 706 a, g dbSNP:538444180
716 716 a, g dbSNP:372222637
725 725 a, g dbSNP:769974302
737 737 c, t dbSNP:748252607
741 741 a, g dbSNP:781597459
744 744 a, g dbSNP:769095184
750 750 a, g dbSNP:747357950
753 753 c, g, t dbSNP:758828833
754 754 a, g dbSNP:571551224
776 776 c, t dbSNP:121907914
783 783 g, t dbSNP:746448834
788 788 c, t dbSNP:778232245
793 793 c, t dbSNP:756791622
796 796 a, g dbSNP:114384476
803 803 c, t dbSNP:112203531
806 806 a, g dbSNP:763754697
810 810 a, g dbSNP:755810074
818 818 a, t dbSNP:752455847
826 826 a, c dbSNP:121907928
832 832 a, g dbSNP:760926425
838 838 a, t dbSNP:775863667
846 846 a, t dbSNP:121907919
851 851 c, t dbSNP:121907918
862 862 c, t dbSNP:374436481
865 865 c, t dbSNP:146769256
875 875 c, t dbSNP:121907912
878 878 a, g dbSNP:774624136
880 880 a, g dbSNP:371018133
889 889 c, t dbSNP:1800427
890 890 a, g dbSNP:777250095
892 892 c, g dbSNP:139803630
897 897 a, g dbSNP:201983312
919 919 c, t dbSNP:780920168
926 926 a, t dbSNP:754636793
927 927 c, g dbSNP:751339399
928 928 c, t dbSNP:201200280
929 929 a, g dbSNP:758400541
939 939 g, t dbSNP:750403446
944 944 c, t dbSNP:372143889
953 953 g, t dbSNP:529518261
961 961 a, g dbSNP:764207199
963 963 a, g dbSNP:760865122
964 964 c, g dbSNP:374226064
965 965 a, t dbSNP:141021880
969 969 c, t dbSNP:151086737
972 972 c, t dbSNP:774770770
983 983 -, cctacgcaa dbSNP:747077748
988 988 a, g dbSNP:771257263
993 993 a, g dbSNP:751742821
1010 1010 a, g dbSNP:138803897
1015 1015 a, c dbSNP:766664478
1017 1017 c, g, t dbSNP:541894561
1018 1018 a, g dbSNP:770253438
1030 1030 c, g dbSNP:200080139
1036 1036 a, c dbSNP:776189526
1036 1036 -, c dbSNP:773606401
1048 1048 c, t dbSNP:367589686
1049 1049 a, g dbSNP:374396492
1057 1057 c, g, t dbSNP:3026383
1068 1068 c, t dbSNP:771949142
1076 1076 c, t dbSNP:121907916
1082 1082 c, t dbSNP:121907924
1083 1083 a, c dbSNP:745639948
1085 1085 c, t dbSNP:778895282
1091 1091 c, t dbSNP:757259413
1092 1092 a, g dbSNP:749244084
1117 1117 c, t dbSNP:373715028
1126 1126 a, g dbSNP:539046948
1129 1129 a, g dbSNP:755018027
1132 1132 a, g dbSNP:751765079
1144 1144 a, g dbSNP:766564648
1168 1168 c, t dbSNP:758603708
1174 1174 a, t dbSNP:773995611
1180 1180 a, g dbSNP:145329506
1187 1187 c, t dbSNP:121907917
1189 1189 a, g dbSNP:200916868
1194 1194 c, g dbSNP:121907927
1195 1195 a, g dbSNP:757591036
1209 1209 c, t dbSNP:754317483
1225 1225 a, g dbSNP:764490432
1235 1235 a, g dbSNP:779126789
1240 1240 a, g dbSNP:121907929
1242 1242 c, t dbSNP:121907925
1268 1268 a, g dbSNP:201846044
1269 1269 g, t dbSNP:199610944
1273 1273 a, g dbSNP:200764930
1277 1277 a, g dbSNP:201439078
1300 1300 a, g dbSNP:149053004
1327 1327 c, t dbSNP:200631911
1330 1330 c, t dbSNP:754125688
1335 1335 c, g dbSNP:778271366
1336 1336 c, t dbSNP:202154006
1345 1345 c, t dbSNP:753272015
1378 1378 c, t dbSNP:767071687
1383 1383 c, t dbSNP:759150602
1384 1384 a, g dbSNP:146433004
1387 1387 c, t dbSNP:764898561
1391 1391 c, t dbSNP:761616236
1399 1399 a, t dbSNP:779631884
1405 1405 c, t dbSNP:115833025
1412 1412 c, t dbSNP:373147550
1419 1419 a, g dbSNP:75572362
1420 1420 a, g dbSNP:755795666
1426 1426 c, g, t dbSNP:184589894
1431 1431 a, c, g dbSNP:773515612
1438 1438 a, g dbSNP:770236522
1444 1444 c, t dbSNP:371568746
1446 1446 a, g dbSNP:543260074
1447 1447 c, g dbSNP:786205467
1450 1450 c, t dbSNP:139416026
1458 1458 c, t dbSNP:755528147
1459 1459 a, g dbSNP:146261351
1463 1463 a, t dbSNP:779363005
1468 1468 c, t dbSNP:757953783
1470 1470 c, g dbSNP:749992296
1471 1471 c, g dbSNP:764917402
1478 1478 a, g dbSNP:756940209
1486 1486 a, t dbSNP:753629975
1489 1489 c, t dbSNP:763938604
1493 1493 c, t dbSNP:760551416
1505 1505 c, g dbSNP:780973082
1515 1515 c, g dbSNP:754759536
1526 1526 g, t dbSNP:373661718
1527 1527 c, g dbSNP:121907915
1552 1552 -, c dbSNP:34615233
1558 1558 a, g dbSNP:369447790
1564 1564 c, t dbSNP:200959420
1569 1569 a, g dbSNP:780115865
1581 1581 c, t dbSNP:780842357
1586 1586 a, g dbSNP:758447642
1587 1587 c, g dbSNP:201690439
1591 1591 c, t dbSNP:764134540
1593 1593 -, c dbSNP:756801119
1593 1593 a, c dbSNP:200015827
1598 1598 a, t dbSNP:752871485
1606 1606 a, c, t dbSNP:143477661
1608 1608 a, g dbSNP:774747652
1621 1621 a, g dbSNP:766842413
1626 1626 c, t dbSNP:763519655
1627 1627 a, g dbSNP:772696878
1628 1628 c, g dbSNP:769190973
1640 1640 a, g dbSNP:121907926
1657 1657 a, c dbSNP:776244636
1663 1663 c, t dbSNP:78290542
1669 1669 g, t dbSNP:372956285
1693 1693 a, c, t dbSNP:369180308
1703 1703 c, t dbSNP:745762788
1708 1708 c, t dbSNP:778743004
1709 1709 a, g dbSNP:541260494
1710 1710 c, t dbSNP:748146547
1713 1713 c, g dbSNP:781399901
1728 1728 a, g dbSNP:755181141
1730 1730 -, ttacagt dbSNP:757946805
1732 1732 a, c dbSNP:35727210
1733 1733 a, c dbSNP:751795008
1734 1734 a, g dbSNP:780356070
1735 1735 a, g dbSNP:758783285
1736 1736 a, t dbSNP:750848278
1737 1737 a, t dbSNP:121907922
1749 1749 -, g dbSNP:752539155
1757 1757 -, aaa dbSNP:760883786
1758 1758 -, aa dbSNP:759391101
1759 1759 -, a, aa, aaa dbSNP:766383236
1759 1759 -, a dbSNP:780753075
1765 1765 a, g dbSNP:765630322
1771 1771 a, t dbSNP:186495466
1772 1772 c, t dbSNP:753270350
1775 1775 -, t dbSNP:772347211
1785 1785 c, g dbSNP:763707989
1796 1796 a, c, t dbSNP:775315951
1806 1806 a, g dbSNP:781672782
1823 1823 a, g dbSNP:577492950
1824 1824 a, g dbSNP:759234423
1828 1828 a, c dbSNP:572377074
1842 1842 g, t dbSNP:201999673
1843 1843 c, g, t dbSNP:765087371
1849 1849 c, t dbSNP:749305106
1850 1850 a, g dbSNP:755533758
1862 1862 c, t dbSNP:375196435
1864 1864 a, g dbSNP:747184562
1872 1872 c, g dbSNP:754742074
1876 1876 a, g dbSNP:780225831
1887 1887 a, g dbSNP:558806590
1925 1925 a, g dbSNP:758658941
1929 1929 a, g dbSNP:750748406
1951 1951 a, g dbSNP:539058643
1957 1957 a, g dbSNP:779388577
1964 1964 c, t dbSNP:753595935
1986 1986 a, g, t dbSNP:568482434
1998 1998 a, g dbSNP:754370657
2030 2030 a, c dbSNP:150518775
2045 2045 a, t dbSNP:752052976
2073 2073 c, t dbSNP:766518284
2094 2094 a, t dbSNP:774392481
2094 2094 -, t dbSNP:200391530
2095 2095 a, t dbSNP:774473337
2099 2099 -, a dbSNP:553690261
2155 2155 c, t dbSNP:55756603
2182 2182 c, t dbSNP:568060956
2206 2206 a, g dbSNP:546803677
2214 2214 c, g dbSNP:534503925
2231 2231 a, g dbSNP:762915630
2341 2341 -, a dbSNP:369801879
2341 2341 a, g dbSNP:3026394
2379 2379 a, g dbSNP:181456283
2400 2400 g, t dbSNP:570775936
2424 2424 c, t dbSNP:768630698
2432 2432 a, t dbSNP:750692692
2501 2501 a, g dbSNP:368683181
2521 2521 a, g dbSNP:189275679
2528 2528 c, t dbSNP:763448163
2579 2579 c, t dbSNP:530931929
2580 2580 a, g dbSNP:115045926
2615 2615 a, g dbSNP:185996251
2629 2629 a, g dbSNP:530259403
2634 2634 c, g dbSNP:559569624
2801 2801 a, g dbSNP:117590302
2806 2806 c, t dbSNP:11827725
2817 2817 g, t dbSNP:558685564
2851 2851 c, t dbSNP:770219222
2922 2922 a, t dbSNP:1506
2930 2930 c, g dbSNP:556014842
2979 2979 c, t dbSNP:565256070
3019 3019 c, t dbSNP:543660269
3025 3025 a, t dbSNP:576321279
3039 3039 c, t dbSNP:760564578
3132 3132 a, c dbSNP:776894983
3174 3174 a, g dbSNP:138035131
3199 3199 g, t dbSNP:770591510
3216 3216 c, t dbSNP:181818313
3281 3281 a, g dbSNP:777414955
3317 3317 g, t dbSNP:574512131
3340 3340 a, t dbSNP:771638843
3342 3342 a, t dbSNP:189545730
3355 3355 c, t dbSNP:185022053
3467 3467 c, t dbSNP:747672883
3492 3492 c, t dbSNP:771990073
3502 3502 a, t dbSNP:778860014
3517 3517 a, g dbSNP:3026395
3524 3524 a, g dbSNP:192091385
3588 3588 a, c dbSNP:754902401
3594 3594 c, g dbSNP:753637547
3624 3624 c, t dbSNP:759587253
3676 3676 a, g dbSNP:189220045
3725 3725 a, g dbSNP:552510355
3795 3795 a, g dbSNP:537383377
3796 3796 c, t dbSNP:757458670
3847 3847 g, t dbSNP:370447209
3897 3897 a, c, t dbSNP:3026396
3898 3898 a, g dbSNP:12421026
3928 3928 c, t dbSNP:530026066
3976 3976 g, t dbSNP:73477658
4019 4019 a, t dbSNP:547544629
4039 4039 a, g dbSNP:371522277
4043 4043 a, g dbSNP:73477656
4109 4109 c, t dbSNP:764306805
4142 4142 c, g dbSNP:558820911
4150 4150 a, g dbSNP:662702
4154 4154 g, t dbSNP:79739975
4173 4173 c, g dbSNP:561409660
4221 4221 c, t dbSNP:541826815
4231 4231 c, t dbSNP:574324676
4244 4244 c, t dbSNP:3026397
4290 4290 a, g dbSNP:760005375
4297 4297 a, g dbSNP:141344418
4321 4321 a, g dbSNP:771263641
4346 4346 -, g dbSNP:529299099
4403 4403 c, t dbSNP:577003141
4433 4433 a, t dbSNP:558836571
4435 4435 a, t dbSNP:138881442
4445 4445 c, t dbSNP:3026398
4457 4457 c, t dbSNP:554531111
4516 4516 c, t dbSNP:184858724
4535 4535 c, t dbSNP:565884645
4541 4541 a, c dbSNP:550826509
4542 4542 a, t dbSNP:771871697
4545 4545 a, g dbSNP:547876359
4559 4559 c, t dbSNP:532518402
4572 4572 c, t dbSNP:571388508
4604 4604 a, g dbSNP:747619738
4620 4620 c, t dbSNP:143185259
4628 4628 a, t dbSNP:111506276
4629 4629 a, t dbSNP:111584109
4630 4630 -, attt dbSNP:397795797
4630 4630 a, t dbSNP:112863817
4633 4633 -, attt dbSNP:371844951
4634 4634 -, att, attt dbSNP:10623053
4635 4635 a, t dbSNP:375367578
4639 4639 c, t dbSNP:542906080
4655 4655 g, t dbSNP:372093736
4657 4657 c, t dbSNP:758752416
4678 4678 c, t dbSNP:778326111
4715 4715 a, c dbSNP:192709453
4723 4723 a, g dbSNP:3026399
4765 4765 a, g dbSNP:541022955
4804 4804 a, c dbSNP:577038770
4817 4817 a, g dbSNP:145696496
4818 4818 c, t dbSNP:558669321
4847 4847 c, t dbSNP:543657720
4906 4906 c, t dbSNP:187705792
4940 4940 a, g dbSNP:608293
4947 4947 c, t dbSNP:182664507
4982 4982 a, t dbSNP:200326314
4983 4983 -, tttt dbSNP:397768344
4983 4983 c, t dbSNP:202143838
4984 4984 -, tttt dbSNP:34919147
4985 4985 a, t dbSNP:3026400
4986 4986 -, ttat, tttt dbSNP:138907979
5049 5049 c, g dbSNP:755840816
5056 5056 a, g dbSNP:371438311
5065 5065 c, t dbSNP:750233565
5133 5133 a, c dbSNP:777926361
5166 5166 c, t dbSNP:191399467
5246 5246 a, g dbSNP:538635671
5265 5265 a, c dbSNP:758654517
5286 5286 a, g dbSNP:752794595
5328 5328 a, g dbSNP:765287348
5408 5408 c, t dbSNP:149777109
5423 5423 a, t dbSNP:754228015
5432 5432 a, g dbSNP:549835579
5474 5474 -, ca dbSNP:141022497
5480 5480 a, g dbSNP:531792461
5482 5482 c, t dbSNP:767004336
5484 5484 c, t dbSNP:567720234
5549 5549 a, g dbSNP:373404895
5567 5567 a, t dbSNP:549546285
5607 5607 -, aa dbSNP:747553297
5620 5620 c, t dbSNP:187714007
5623 5623 g, t dbSNP:183433948
5696 5696 a, g dbSNP:3026401
5704 5704 c, t dbSNP:190491652
5742 5742 a, t dbSNP:560550871
5799 5799 a, g dbSNP:200059324
5800 5800 g, t dbSNP:767247431
5811 5811 a, c dbSNP:560212635
5832 5832 a, g dbSNP:765351129
5861 5861 a, c dbSNP:757623571
5864 5864 c, t dbSNP:564992218
5924 5924 a, g dbSNP:543493095
5972 5972 a, g dbSNP:548846660
5978 5978 a, g dbSNP:374309046
6012 6012 a, g dbSNP:761607482
6015 6015 a, g dbSNP:541788322
6034 6034 c, g dbSNP:16922475
6035 6035 c, t dbSNP:186769968
6057 6057 c, g dbSNP:542787301
6067 6067 a, g dbSNP:572287003
6107 6107 a, c, g dbSNP:544117348
6108 6108 c, g dbSNP:183115097
6119 6119 a, t dbSNP:748836383
6127 6127 -, aa dbSNP:777790874
6175 6175 c, t dbSNP:538672567
6200 6200 g, t dbSNP:775235098
6238 6238 c, t dbSNP:769748376
6271 6271 c, t dbSNP:745626044
6311 6311 a, t dbSNP:577569048
6325 6325 c, t dbSNP:191251943
6337 6337 g, t dbSNP:185968715
6365 6365 a, c dbSNP:140971065
6388 6388 a, g dbSNP:563195323
6389 6389 a, c dbSNP:781008488
6434 6434 c, g dbSNP:180780893
6460 6460 c, t dbSNP:544178082
6496 6496 a, g dbSNP:758601497
6502 6502 c, t dbSNP:534387233
6515 6515 c, g dbSNP:556214355
6517 6517 a, g dbSNP:567186138
6523 6523 -, a dbSNP:35674517
6580 6580 c, t dbSNP:188417347
6606 6606 c, t dbSNP:532145324
6609 6609 c, t dbSNP:564825208
6684 6684 a, g dbSNP:549791945
6734 6734 c, t dbSNP:531351390
6737 6737 c, t dbSNP:759356480
6744 6744 c, g dbSNP:748381549
6767 6767 c, t dbSNP:543950317
6798 6798 a, c dbSNP:774374777
6846 6846 a, g dbSNP:146579778
6876 6876 c, t dbSNP:754952455

Target ORF information:

RefSeq Version NM_001127612
Organism Homo sapiens (human)
Definition Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_001127612

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GGTGTCCAAC GGATGTGTGA GTAAAATTCT GGGCAGGTAT
TACGAGACTG GCTCCATCAG ACCCAGGGCA ATCGGTGGTA GTAAACCGAG AGTAGCGACT
CCAGAAGTTG TAAGCAAAAT AGCCCAGTAT AAGCGGGAGT GCCCGTCCAT CTTTGCTTGG
GAAATCCGAG ACAGATTACT GTCCGAGGGG GTCTGTACCA ACGATAACAT ACCAAGCGTG
TCATCAATAA ACAGAGTTCT TCGCAACCTG GCTAGCGAAA AGCAACAGAT GGGCGCAGAC
GGCATGTATG ATAAACTAAG GATGTTGAAC GGGCAGACCG GAAGCTGGGG CACCCGCCCT
GGTTGGTATC CGGGGACTTC GGTGCCAGGG CAACCTACGC AAGATGGCTG CCAGCAACAG
GAAGGAGGGG GAGAGAATAC CAACTCCATC AGTTCCAACG GAGAAGATTC AGATGAGGCT
CAAATGCGAC TTCAGCTGAA GCGGAAGCTG CAAAGAAATA GAACATCCTT TACCCAAGAG
CAAATTGAGG CCCTGGAGAA AGAGTTTGAG AGAACCCATT ATCCAGATGT GTTTGCCCGA
GAAAGACTAG CAGCCAAAAT AGATCTACCT GAAGCAAGAA TACAGGTATG GTTTTCTAAT
CGAAGGGCCA AATGGAGAAG AGAAGAAAAA CTGAGGAATC AGAGAAGACA GGCCAGCAAC
ACACCTAGTC ATATTCCTAT CAGCAGTAGT TTCAGCACCA GTGTCTACCA ACCAATTCCA
CAACCCACCA CACCGGTTTC CTCCTTCACA TCTGGCTCCA TGTTGGGCCG AACAGACACA
GCCCTCACAA ACACCTACAG CGCTCTGCCG CCTATGCCCA GCTTCACCAT GGCAAATAAC
CTGCCTATGC AACCCCCAGT CCCCAGCCAG ACCTCCTCAT ACTCCTGCAT GCTGCCCACC
AGCCCTTCGG TGAATGGGCG GAGTTATGAT ACCTACACCC CCCCACATAT GCAGACACAC
ATGAACAGTC AGCCAATGGG CACCTCGGGC ACCACTTCAA CAGGACTCAT TTCCCCTGGT
GTGTCAGTTC CAGTTCAAGT TCCCGGAAGT GAACCTGATA TGTCTCAATA CTGGCCAAGA
TTACAGTAA

The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.


CloneID OHu20414D
Sequence Information ORF Nucleotide Sequence (Length: 1269bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 10-JUL-2015
Organism Homo sapiens (human)
Product paired box protein Pax-6 isoform a
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA079367.1, M77844.1, AY707088.1, Z83307.1 and BP394576.1. Summary: This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. It initiates from the B (P1) promoter. Variants 1, 3, 6 and 7 encode the same isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M77844.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGCAGAACA GTCACAGCGG AGTGAATCAG CTCGGTGGTG TCTTTGTCAA CGGGCGGCCA 
CTGCCGGACT CCACCCGGCA GAAGATTGTA GAGCTAGCTC ACAGCGGGGC CCGGCCGTGC
GACATTTCCC GAATTCTGCA GGTGTCCAAC GGATGTGTGA GTAAAATTCT GGGCAGGTAT
TACGAGACTG GCTCCATCAG ACCCAGGGCA ATCGGTGGTA GTAAACCGAG AGTAGCGACT
CCAGAAGTTG TAAGCAAAAT AGCCCAGTAT AAGCGGGAGT GCCCGTCCAT CTTTGCTTGG
GAAATCCGAG ACAGATTACT GTCCGAGGGG GTCTGTACCA ACGATAACAT ACCAAGCGTG
TCATCAATAA ACAGAGTTCT TCGCAACCTG GCTAGCGAAA AGCAACAGAT GGGCGCAGAC
GGCATGTATG ATAAACTAAG GATGTTGAAC GGGCAGACCG GAAGCTGGGG CACCCGCCCT
GGTTGGTATC CGGGGACTTC GGTGCCAGGG CAACCTACGC AAGATGGCTG CCAGCAACAG
GAAGGAGGGG GAGAGAATAC CAACTCCATC AGTTCCAACG GAGAAGATTC AGATGAGGCT
CAAATGCGAC TTCAGCTGAA GCGGAAGCTG CAAAGAAATA GAACATCCTT TACCCAAGAG
CAAATTGAGG CCCTGGAGAA AGAGTTTGAG AGAACCCATT ATCCAGATGT GTTTGCCCGA
GAAAGACTAG CAGCCAAAAT AGATCTACCT GAAGCAAGAA TACAGGTATG GTTTTCTAAT
CGAAGGGCCA AATGGAGAAG AGAAGAAAAA CTGAGGAATC AGAGAAGACA GGCCAGCAAC
ACACCTAGTC ATATTCCTAT CAGCAGTAGT TTCAGCACCA GTGTCTACCA ACCAATTCCA
CAACCCACCA CACCGGTTTC CTCCTTCACA TCTGGCTCCA TGTTGGGCCG AACAGACACA
GCCCTCACAA ACACCTACAG CGCTCTGCCG CCTATGCCCA GCTTCACCAT GGCAAATAAC
CTGCCTATGC AACCCCCAGT CCCCAGCCAG ACCTCCTCAT ACTCCTGCAT GCTGCCCACC
AGCCCTTCGG TGAATGGGCG GAGTTATGAT ACCTACACCC CCCCACATAT GCAGACACAC
ATGAACAGTC AGCCAATGGG CACCTCGGGC ACCACTTCAA CAGGACTCAT TTCCCCTGGT
GTGTCAGTTC CAGTTCAAGT TCCCGGAAGT GAACCTGATA TGTCTCAATA CTGGCCAAGA
TTACAGTAA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_001245394.1
CDS444..1712
Misc Feature(1)327..329(+)
Misc Feature(2)456..836(+)
Misc Feature(3)468..827(+)
Misc Feature(4)519..827(+)
Misc Feature(5)1077..1250(+)
Misc Feature(6)1077..1244(+)
Misc Feature(7)1080..1232(+)
Exon (1)1..315
Gene:PAX6
Gene Synonym:
Exon (2)316..392
Gene:PAX6
Gene Synonym:
Exon (3)393..453
Gene:PAX6
Gene Synonym:
Exon (4)454..584
Gene:PAX6
Gene Synonym:
Exon (5)585..800
Gene:PAX6
Gene Synonym:
Exon (6)801..966
Gene:PAX6
Gene Synonym:
Exon (7)967..1125
Gene:PAX6
Gene Synonym:
Exon (8)1126..1208
Gene:PAX6
Gene Synonym:
Exon (9)1209..1359
Gene:PAX6
Gene Synonym:
Exon (10)1360..1475
Gene:PAX6
Gene Synonym:
Exon (11)1476..1626
Gene:PAX6
Gene Synonym:
Exon (12)1627..6854
Gene:PAX6
Gene Synonym:
Translation
Position Chain Variation Link
63 63 g, t dbSNP:536849527
85 85 c, t dbSNP:751698268
120 120 c, g dbSNP:566281941
149 149 a, c dbSNP:368691530
221 221 c, t dbSNP:547667102
264 264 a, g dbSNP:75563367
297 297 a, g dbSNP:192375760
304 304 a, t dbSNP:763579166
318 318 a, g dbSNP:769767377
331 331 a, t dbSNP:188423337
337 337 c, t dbSNP:111270711
339 339 c, t dbSNP:772347668
394 394 a, g dbSNP:750607024
405 405 a, g, t dbSNP:370232963
413 413 c, t dbSNP:754173950
419 419 c, t dbSNP:376974874
432 432 a, g dbSNP:373532310
439 439 a, c dbSNP:761226699
476 476 c, t dbSNP:772746456
479 479 c, t dbSNP:769593111
489 489 -, g dbSNP:398123296
512 512 c, t dbSNP:747921005
515 515 c, t dbSNP:776541044
519 519 c, g dbSNP:121907913
531 531 a, g dbSNP:768554144
533 533 a, g dbSNP:747019294
536 536 a, g dbSNP:778947003
555 555 c, t dbSNP:397514640
566 566 c, t dbSNP:757338362
573 573 a, c dbSNP:141873759
579 579 c, g dbSNP:78692805
581 581 g, t dbSNP:777885823
593 593 a, c, t dbSNP:727504064
595 595 g, t dbSNP:587778874
617 617 c, t dbSNP:763807196
626 626 c, t dbSNP:760490431
634 634 g, t dbSNP:121907920
642 642 a, c dbSNP:775355156
644 644 a, g dbSNP:771974160
645 645 c, t dbSNP:121907923
657 657 a, g dbSNP:759557055
677 677 a, g dbSNP:750195797
680 680 a, g dbSNP:538444180
690 690 a, g dbSNP:372222637
699 699 a, g dbSNP:769974302
711 711 c, t dbSNP:748252607
715 715 a, g dbSNP:781597459
718 718 a, g dbSNP:769095184
724 724 a, g dbSNP:747357950
727 727 c, g, t dbSNP:758828833
728 728 a, g dbSNP:571551224
750 750 c, t dbSNP:121907914
757 757 g, t dbSNP:746448834
762 762 c, t dbSNP:778232245
767 767 c, t dbSNP:756791622
770 770 a, g dbSNP:114384476
777 777 c, t dbSNP:112203531
780 780 a, g dbSNP:763754697
784 784 a, g dbSNP:755810074
792 792 a, t dbSNP:752455847
800 800 a, c dbSNP:121907928
806 806 a, g dbSNP:760926425
812 812 a, t dbSNP:775863667
820 820 a, t dbSNP:121907919
825 825 c, t dbSNP:121907918
836 836 c, t dbSNP:374436481
839 839 c, t dbSNP:146769256
849 849 c, t dbSNP:121907912
852 852 a, g dbSNP:774624136
854 854 a, g dbSNP:371018133
863 863 c, t dbSNP:1800427
864 864 a, g dbSNP:777250095
866 866 c, g dbSNP:139803630
871 871 a, g dbSNP:201983312
893 893 c, t dbSNP:780920168
900 900 a, t dbSNP:754636793
901 901 c, g dbSNP:751339399
902 902 c, t dbSNP:201200280
903 903 a, g dbSNP:758400541
913 913 g, t dbSNP:750403446
918 918 c, t dbSNP:372143889
927 927 g, t dbSNP:529518261
935 935 a, g dbSNP:764207199
937 937 a, g dbSNP:760865122
938 938 c, g dbSNP:374226064
939 939 a, t dbSNP:141021880
943 943 c, t dbSNP:151086737
946 946 c, t dbSNP:774770770
957 957 -, cctacgcaa dbSNP:747077748
962 962 a, g dbSNP:771257263
967 967 a, g dbSNP:751742821
984 984 a, g dbSNP:138803897
989 989 a, c dbSNP:766664478
991 991 c, g, t dbSNP:541894561
992 992 a, g dbSNP:770253438
1004 1004 c, g dbSNP:200080139
1010 1010 a, c dbSNP:776189526
1010 1010 -, c dbSNP:773606401
1022 1022 c, t dbSNP:367589686
1023 1023 a, g dbSNP:374396492
1031 1031 c, g, t dbSNP:3026383
1042 1042 c, t dbSNP:771949142
1050 1050 c, t dbSNP:121907916
1056 1056 c, t dbSNP:121907924
1057 1057 a, c dbSNP:745639948
1059 1059 c, t dbSNP:778895282
1065 1065 c, t dbSNP:757259413
1066 1066 a, g dbSNP:749244084
1091 1091 c, t dbSNP:373715028
1100 1100 a, g dbSNP:539046948
1103 1103 a, g dbSNP:755018027
1106 1106 a, g dbSNP:751765079
1118 1118 a, g dbSNP:766564648
1142 1142 c, t dbSNP:758603708
1148 1148 a, t dbSNP:773995611
1154 1154 a, g dbSNP:145329506
1161 1161 c, t dbSNP:121907917
1163 1163 a, g dbSNP:200916868
1168 1168 c, g dbSNP:121907927
1169 1169 a, g dbSNP:757591036
1183 1183 c, t dbSNP:754317483
1199 1199 a, g dbSNP:764490432
1209 1209 a, g dbSNP:779126789
1214 1214 a, g dbSNP:121907929
1216 1216 c, t dbSNP:121907925
1242 1242 a, g dbSNP:201846044
1243 1243 g, t dbSNP:199610944
1247 1247 a, g dbSNP:200764930
1251 1251 a, g dbSNP:201439078
1274 1274 a, g dbSNP:149053004
1301 1301 c, t dbSNP:200631911
1304 1304 c, t dbSNP:754125688
1309 1309 c, g dbSNP:778271366
1310 1310 c, t dbSNP:202154006
1319 1319 c, t dbSNP:753272015
1352 1352 c, t dbSNP:767071687
1357 1357 c, t dbSNP:759150602
1358 1358 a, g dbSNP:146433004
1361 1361 c, t dbSNP:764898561
1365 1365 c, t dbSNP:761616236
1373 1373 a, t dbSNP:779631884
1379 1379 c, t dbSNP:115833025
1386 1386 c, t dbSNP:373147550
1393 1393 a, g dbSNP:75572362
1394 1394 a, g dbSNP:755795666
1400 1400 c, g, t dbSNP:184589894
1405 1405 a, c, g dbSNP:773515612
1412 1412 a, g dbSNP:770236522
1418 1418 c, t dbSNP:371568746
1420 1420 a, g dbSNP:543260074
1421 1421 c, g dbSNP:786205467
1424 1424 c, t dbSNP:139416026
1432 1432 c, t dbSNP:755528147
1433 1433 a, g dbSNP:146261351
1437 1437 a, t dbSNP:779363005
1442 1442 c, t dbSNP:757953783
1444 1444 c, g dbSNP:749992296
1445 1445 c, g dbSNP:764917402
1452 1452 a, g dbSNP:756940209
1460 1460 a, t dbSNP:753629975
1463 1463 c, t dbSNP:763938604
1467 1467 c, t dbSNP:760551416
1479 1479 c, g dbSNP:780973082
1489 1489 c, g dbSNP:754759536
1500 1500 g, t dbSNP:373661718
1501 1501 c, g dbSNP:121907915
1526 1526 -, c dbSNP:34615233
1532 1532 a, g dbSNP:369447790
1538 1538 c, t dbSNP:200959420
1543 1543 a, g dbSNP:780115865
1555 1555 c, t dbSNP:780842357
1560 1560 a, g dbSNP:758447642
1561 1561 c, g dbSNP:201690439
1565 1565 c, t dbSNP:764134540
1567 1567 -, c dbSNP:756801119
1567 1567 a, c dbSNP:200015827
1572 1572 a, t dbSNP:752871485
1580 1580 a, c, t dbSNP:143477661
1582 1582 a, g dbSNP:774747652
1595 1595 a, g dbSNP:766842413
1600 1600 c, t dbSNP:763519655
1601 1601 a, g dbSNP:772696878
1602 1602 c, g dbSNP:769190973
1614 1614 a, g dbSNP:121907926
1631 1631 a, c dbSNP:776244636
1637 1637 c, t dbSNP:78290542
1643 1643 g, t dbSNP:372956285
1667 1667 a, c, t dbSNP:369180308
1677 1677 c, t dbSNP:745762788
1682 1682 c, t dbSNP:778743004
1683 1683 a, g dbSNP:541260494
1684 1684 c, t dbSNP:748146547
1687 1687 c, g dbSNP:781399901
1702 1702 a, g dbSNP:755181141
1704 1704 -, ttacagt dbSNP:757946805
1706 1706 a, c dbSNP:35727210
1707 1707 a, c dbSNP:751795008
1708 1708 a, g dbSNP:780356070
1709 1709 a, g dbSNP:758783285
1710 1710 a, t dbSNP:750848278
1711 1711 a, t dbSNP:121907922
1723 1723 -, g dbSNP:752539155
1731 1731 -, aaa dbSNP:760883786
1732 1732 -, aa dbSNP:759391101
1733 1733 -, a, aa, aaa dbSNP:766383236
1733 1733 -, a dbSNP:780753075
1739 1739 a, g dbSNP:765630322
1745 1745 a, t dbSNP:186495466
1746 1746 c, t dbSNP:753270350
1749 1749 -, t dbSNP:772347211
1759 1759 c, g dbSNP:763707989
1770 1770 a, c, t dbSNP:775315951
1780 1780 a, g dbSNP:781672782
1797 1797 a, g dbSNP:577492950
1798 1798 a, g dbSNP:759234423
1802 1802 a, c dbSNP:572377074
1816 1816 g, t dbSNP:201999673
1817 1817 c, g, t dbSNP:765087371
1823 1823 c, t dbSNP:749305106
1824 1824 a, g dbSNP:755533758
1836 1836 c, t dbSNP:375196435
1838 1838 a, g dbSNP:747184562
1846 1846 c, g dbSNP:754742074
1850 1850 a, g dbSNP:780225831
1861 1861 a, g dbSNP:558806590
1899 1899 a, g dbSNP:758658941
1903 1903 a, g dbSNP:750748406
1925 1925 a, g dbSNP:539058643
1931 1931 a, g dbSNP:779388577
1938 1938 c, t dbSNP:753595935
1960 1960 a, g, t dbSNP:568482434
1972 1972 a, g dbSNP:754370657
2004 2004 a, c dbSNP:150518775
2019 2019 a, t dbSNP:752052976
2047 2047 c, t dbSNP:766518284
2068 2068 a, t dbSNP:774392481
2068 2068 -, t dbSNP:200391530
2069 2069 a, t dbSNP:774473337
2073 2073 -, a dbSNP:553690261
2129 2129 c, t dbSNP:55756603
2156 2156 c, t dbSNP:568060956
2180 2180 a, g dbSNP:546803677
2188 2188 c, g dbSNP:534503925
2205 2205 a, g dbSNP:762915630
2315 2315 -, a dbSNP:369801879
2315 2315 a, g dbSNP:3026394
2353 2353 a, g dbSNP:181456283
2374 2374 g, t dbSNP:570775936
2398 2398 c, t dbSNP:768630698
2406 2406 a, t dbSNP:750692692
2475 2475 a, g dbSNP:368683181
2495 2495 a, g dbSNP:189275679
2502 2502 c, t dbSNP:763448163
2553 2553 c, t dbSNP:530931929
2554 2554 a, g dbSNP:115045926
2589 2589 a, g dbSNP:185996251
2603 2603 a, g dbSNP:530259403
2608 2608 c, g dbSNP:559569624
2775 2775 a, g dbSNP:117590302
2780 2780 c, t dbSNP:11827725
2791 2791 g, t dbSNP:558685564
2825 2825 c, t dbSNP:770219222
2896 2896 a, t dbSNP:1506
2904 2904 c, g dbSNP:556014842
2953 2953 c, t dbSNP:565256070
2993 2993 c, t dbSNP:543660269
2999 2999 a, t dbSNP:576321279
3013 3013 c, t dbSNP:760564578
3106 3106 a, c dbSNP:776894983
3148 3148 a, g dbSNP:138035131
3173 3173 g, t dbSNP:770591510
3190 3190 c, t dbSNP:181818313
3255 3255 a, g dbSNP:777414955
3291 3291 g, t dbSNP:574512131
3314 3314 a, t dbSNP:771638843
3316 3316 a, t dbSNP:189545730
3329 3329 c, t dbSNP:185022053
3441 3441 c, t dbSNP:747672883
3466 3466 c, t dbSNP:771990073
3476 3476 a, t dbSNP:778860014
3491 3491 a, g dbSNP:3026395
3498 3498 a, g dbSNP:192091385
3562 3562 a, c dbSNP:754902401
3568 3568 c, g dbSNP:753637547
3598 3598 c, t dbSNP:759587253
3650 3650 a, g dbSNP:189220045
3699 3699 a, g dbSNP:552510355
3769 3769 a, g dbSNP:537383377
3770 3770 c, t dbSNP:757458670
3821 3821 g, t dbSNP:370447209
3871 3871 a, c, t dbSNP:3026396