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C9orf72 chromosome 9 open reading frame 72 [Homo sapiens (human)]

Gene Symbol C9orf72
Entrez Gene ID 203228
Full Name chromosome 9 open reading frame 72
Synonyms ALSFTD, FTDALS, FTDALS1
General protein information
Preferred Names
protein C9orf72
Names
protein C9orf72
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9p21.2

Summary The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]. lac of sum
Disorder MIM:

614260

Disorder Html:





The following C9orf72 gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the C9orf72 gene which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu23067 NM_001256054 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 5-7 $319
OHu23067 NM_018325 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 5-7 $379
OHu22712 NM_145005 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 5-7 $199

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


CloneID OHu23067
Accession Version NM_001256054.2
Sequence Information ORF Nucleotide Sequence (Length: 1446bp)
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 11-JUL-2015
Organism Homo sapiens (human)
Product protein C9orf72 isoform a
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BQ068108.1, JN681271.1 and AL832229.1. On Feb 7, 2015 this sequence version replaced gi:365906243. Summary: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]. Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a). Hexanucleotide expansions that can occur in a repeat region between the first and second exon of this variant have been associated with frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS;PMID: 21944778, PMID: 21944779 ). Variants 2 and 3 encode the same protein. 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 :: JN681271.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##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
1321
1381
1441
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAATGCCA TCAGCTCACA CTTGCAAACC TGTGGCTGTT CCGTTGTAGT AGGTAGCAGT
GCAGAGAAAG TAAATAAGAT AGTCAGAACA TTATGCCTTT TTCTGACTCC AGCAGAGAGA
AAATGCTCCA GGTTATGTGA AGCAGAATCA TCATTTAAAT ATGAGTCAGG GCTCTTTGTA
CAAGGCCTGC TAAAGGATTC AACTGGAAGC TTTGTGCTGC CTTTCCGGCA AGTCATGTAT
GCTCCATATC CCACCACACA CATAGATGTG GATGTCAATA CTGTGAAGCA GATGCCACCC
TGTCATGAAC ATATTTATAA TCAGCGTAGA TACATGAGAT CCGAGCTGAC AGCCTTCTGG
AGAGCCACTT CAGAAGAAGA CATGGCTCAG GATACGATCA TCTACACTGA CGAAAGCTTT
ACTCCTGATT TGAATATTTT TCAAGATGTC TTACACAGAG ACACTCTAGT GAAAGCCTTC
CTGGATCAGG TCTTTCAGCT GAAACCTGGC TTATCTCTCA GAAGTACTTT CCTTGCACAG
TTTCTACTTG TCCTTCACAG AAAAGCCTTG ACACTAATAA AATATATAGA AGACGATACG
CAGAAGGGAA AAAAGCCCTT TAAATCTCTT CGGAACCTGA AGATAGACCT TGATTTAACA
GCAGAGGGCG ATCTTAACAT AATAATGGCT CTGGCTGAGA AAATTAAACC AGGCCTACAC
TCTTTTATCT TTGGAAGACC TTTCTACACT AGTGTGCAAG AACGAGATGT TCTAATGACT
TTTTAA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_001242983.1
CDS203..1648
Misc Feature(1)179..181(+)
Misc Feature(2)380..1177(+)
Exon (1)1..158
Gene:C9orf72
Gene Synonym:
Exon (2)159..646
Gene:C9orf72
Gene Synonym:
Exon (3)647..706
Gene:C9orf72
Gene Synonym:
Exon (4)707..802
Gene:C9orf72
Gene Synonym:
Exon (5)803..867
Gene:C9orf72
Gene Synonym:
Exon (6)868..940
Gene:C9orf72
Gene Synonym:
Exon (7)941..1057
Gene:C9orf72
Gene Synonym:
Exon (8)1058..1293
Gene:C9orf72
Gene Synonym:
Exon (9)1294..1351
Gene:C9orf72
Gene Synonym:
Exon (10)1352..1461
Gene:C9orf72
Gene Synonym:
Exon (11)1462..3338
Gene:C9orf72
Gene Synonym:
Translation
Position Chain Variation Link
13 13 c, g dbSNP:779583741
18 18 c, g dbSNP:550178688
39 39 c, t dbSNP:41272893
51 51 a, g dbSNP:756998583
52 52 -, agttccgc dbSNP:546040555
56 56 c, t dbSNP:570970915
58 58 a, g dbSNP:564218190
88 88 a, c dbSNP:183102304
90 90 c, t dbSNP:750403732
159 159 a, g, t dbSNP:773831755
162 162 c, t dbSNP:757329918
166 166 c, t dbSNP:371125601
167 167 a, g dbSNP:532143003
172 172 a, g dbSNP:780142238
176 176 a, g dbSNP:10757668
178 178 a, t dbSNP:746005912
181 181 a, c dbSNP:77791104
183 183 a, g dbSNP:781403258
184 184 a, t dbSNP:77042371
195 195 a, g dbSNP:548524458
204 204 g, t dbSNP:751838609
207 207 c, t dbSNP:149095486
208 208 a, g dbSNP:138028443
214 214 -, ctt dbSNP:746135276
218 218 c, t dbSNP:752995172
223 223 a, g dbSNP:370462123
225 225 c, t dbSNP:377404268
226 226 a, g dbSNP:150335394
230 230 c, g dbSNP:749975238
234 234 c, t dbSNP:767044830
271 271 a, t dbSNP:761175698
273 273 c, t dbSNP:373581954
284 284 a, g dbSNP:748020371
288 288 c, t dbSNP:140145837
293 293 g, t dbSNP:768123891
295 295 c, t dbSNP:151145224
297 297 a, g dbSNP:775414064
298 298 c, t dbSNP:769904411
323 323 a, g dbSNP:745772901
324 324 g, t dbSNP:781240158
331 331 c, t dbSNP:530933212
338 338 a, g, t dbSNP:778062788
341 341 a, c, g, t dbSNP:181815263
346 346 a, g dbSNP:755295447
348 348 c, g dbSNP:201250307
350 350 a, g dbSNP:766734628
354 354 a, g dbSNP:761388023
356 356 g, t dbSNP:144163719
362 362 c, t dbSNP:199871012
391 391 a, c dbSNP:763867472
398 398 a, g, t dbSNP:373709108
408 408 a, g dbSNP:575487786
409 409 a, g dbSNP:775469154
412 412 a, g dbSNP:765159535
436 436 g, t dbSNP:759356207
438 438 c, g dbSNP:776723269
444 444 a, g dbSNP:770707789
457 457 c, t dbSNP:747181422
461 461 c, g, t dbSNP:565771464
463 463 a, g dbSNP:748399586
465 465 c, g dbSNP:779057588
468 468 a, g dbSNP:755346261
469 469 a, g dbSNP:749583596
472 472 a, g dbSNP:145418675
485 485 a, g dbSNP:547548706
490 490 a, c, g dbSNP:147752518
499 499 c, t dbSNP:112179438
511 511 c, g dbSNP:369687342
522 522 a, g dbSNP:145645318
523 523 c, t dbSNP:757946176
529 529 a, g, t dbSNP:764924843
531 531 -, a dbSNP:781421755
532 532 c, t dbSNP:759411226
537 537 c, t dbSNP:776286891
542 542 a, g dbSNP:373008422
547 547 a, g dbSNP:760497690
566 566 a, c dbSNP:773159639
574 574 c, t dbSNP:772066850
575 575 c, g dbSNP:372541138
580 580 a, t dbSNP:748164180
586 586 c, t dbSNP:111392681
589 589 a, g dbSNP:376972290
599 599 a, g dbSNP:749708068
606 606 -, t dbSNP:757343343
612 612 a, g, t dbSNP:753158467
620 620 c, t dbSNP:756687033
621 621 a, g, t dbSNP:781692000
627 627 a, g dbSNP:558489073
642 642 a, g dbSNP:757995593
654 654 a, c dbSNP:768913769
664 664 c, t dbSNP:188263738
669 669 -, aga dbSNP:753657530
670 670 c, g, t dbSNP:770077991
679 679 a, g dbSNP:374411112
683 683 c, g dbSNP:781558367
685 685 c, t dbSNP:772174049
691 691 a, g dbSNP:771563218
695 695 a, g dbSNP:370135790
696 696 c, t dbSNP:200598638
698 698 a, g dbSNP:368117087
701 701 c, g dbSNP:754495907
707 707 c, g dbSNP:763962885
718 718 c, t dbSNP:758413334
725 725 a, g dbSNP:376288435
728 728 c, g dbSNP:765439616
730 730 c, t dbSNP:34608611
737 737 a, g dbSNP:777179184
746 746 c, t dbSNP:373783122
749 749 a, g dbSNP:761060005
770 770 a, c, g dbSNP:772628791
771 771 g, t dbSNP:748806632
775 775 a, g dbSNP:775042273
782 782 a, c dbSNP:769370663
788 788 c, g dbSNP:748325535
790 790 -, tct dbSNP:760314365
805 805 a, g dbSNP:748151371
806 806 c, g dbSNP:778655311
809 809 a, g dbSNP:755110393
816 816 a, t dbSNP:753959942
817 817 a, t dbSNP:556107429
820 820 c, t dbSNP:756381310
821 821 -, aat dbSNP:113299382
822 822 a, g dbSNP:17769294
830 830 c, g dbSNP:767953886
831 831 a, g dbSNP:762036455
837 837 c, g dbSNP:752121988
838 838 g, t dbSNP:570594678
845 845 c, t dbSNP:113939233
846 846 a, c, g dbSNP:759114309
850 850 c, t dbSNP:149801256
867 867 a, g dbSNP:111621456
872 872 a, g dbSNP:139743072
884 884 c, t dbSNP:147034723
901 901 g, t dbSNP:74619849
904 904 c, t dbSNP:750678579
905 905 a, g dbSNP:781214485
908 908 a, g, t dbSNP:751866003
910 910 a, g dbSNP:764644027
911 911 a, g dbSNP:763431979
913 913 a, t dbSNP:555236783
917 917 a, t dbSNP:765907344
922 922 a, t dbSNP:760132434
941 941 a, c dbSNP:757408861
943 943 a, g dbSNP:747458864
946 946 c, g dbSNP:747748716
954 954 a, t dbSNP:778084380
967 967 a, g dbSNP:758724401
979 979 c, g dbSNP:753228403
984 984 a, g dbSNP:765663452
986 986 -, t dbSNP:749858364
998 998 c, t dbSNP:755714382
1001 1001 a, g dbSNP:749883850
1004 1004 a, g dbSNP:767245865
1011 1011 c, t dbSNP:545433336
1015 1015 a, g dbSNP:774015166
1021 1021 a, g dbSNP:764000894
1024 1024 c, t dbSNP:762776605
1026 1026 a, g dbSNP:775575174
1041 1041 c, t dbSNP:769851288
1064 1064 a, g dbSNP:747477332
1066 1066 c, t dbSNP:773487371
1072 1072 c, t dbSNP:10122902
1076 1076 a, g dbSNP:201261393
1089 1089 a, g dbSNP:370472336
1094 1094 c, g dbSNP:769024683
1098 1098 c, t dbSNP:35726666
1103 1103 a, g dbSNP:780733794
1124 1124 a, c dbSNP:756724177
1140 1140 a, g dbSNP:139502204
1144 1144 g, t dbSNP:777628989
1153 1153 a, g dbSNP:758101832
1154 1154 a, g dbSNP:754395436
1157 1157 c, t dbSNP:764976547
1162 1162 a, c dbSNP:759330431
1173 1173 a, g dbSNP:753735631
1175 1175 a, g dbSNP:766277022
1179 1179 a, t dbSNP:539512959
1182 1182 a, g dbSNP:374369837
1184 1184 c, t dbSNP:370756199
1187 1187 c, t dbSNP:773251849
1188 1188 a, g dbSNP:201961571
1192 1192 a, t dbSNP:538012382
1196 1196 a, g dbSNP:146043466
1198 1198 c, g dbSNP:774506585
1203 1203 c, g dbSNP:141784061
1204 1204 c, g, t dbSNP:780494226
1205 1205 a, g dbSNP:770323658
1212 1212 c, t dbSNP:746566978
1217 1217 c, t dbSNP:373419325
1220 1220 c, t dbSNP:371377376
1222 1222 c, g dbSNP:757944597
1228 1228 a, c dbSNP:752423770
1242 1242 -, aga dbSNP:770353129
1244 1244 a, g dbSNP:576983400
1251 1251 a, g dbSNP:754736903
1252 1252 c, g dbSNP:753650999
1257 1257 c, g, t dbSNP:557931293
1263 1263 -, acgatcat dbSNP:568888933
1263 1263 c, t dbSNP:750317119
1266 1266 a, g dbSNP:556983155
1268 1268 a, c dbSNP:766352238
1273 1273 c, t dbSNP:767605056
1274 1274 a, g, t dbSNP:774440971
1277 1277 a, g dbSNP:764371434
1279 1279 c, t dbSNP:763285533
1280 1280 g, t dbSNP:775901504
1298 1298 a, g dbSNP:550153466
1306 1306 a, g dbSNP:199900665
1313 1313 a, t dbSNP:773877285
1318 1318 c, g dbSNP:148034295
1324 1324 c, t dbSNP:748989629
1326 1326 c, g, t dbSNP:755906381
1336 1336 a, g dbSNP:192859049
1338 1338 c, t dbSNP:781164075
1351 1351 c, g dbSNP:757165131
1375 1375 a, g dbSNP:775188943
1379 1379 a, c, t dbSNP:2643806
1382 1382 a, g dbSNP:745710266
1386 1386 a, g dbSNP:185358772
1390 1390 a, t dbSNP:780934681
1393 1393 a, c, g dbSNP:746990973
1400 1400 -, ca dbSNP:778862260
1406 1406 c, t dbSNP:811641
1408 1408 a, c, g dbSNP:770228283
1409 1409 c, t dbSNP:758512117
1412 1412 g, t dbSNP:541965231
1427 1427 a, g dbSNP:779339076
1431 1431 c, t dbSNP:755216584
1432 1432 a, g dbSNP:530261789
1435 1435 a, c, g dbSNP:34602100
1440 1440 c, t dbSNP:760887239
1441 1441 a, g dbSNP:750942348
1447 1447 c, t dbSNP:767903441
1450 1450 a, c dbSNP:762581307
1456 1456 c, t dbSNP:201734930
1460 1460 a, g dbSNP:769477910
1461 1461 c, t dbSNP:759218702
1463 1463 a, c dbSNP:774370838
1464 1464 a, c dbSNP:768858247
1465 1465 a, g dbSNP:812272
1468 1468 g, t dbSNP:780380295
1469 1469 g, t dbSNP:756267679
1477 1477 a, g dbSNP:2453563
1478 1478 c, t dbSNP:190477376
1480 1480 a, c dbSNP:757569780
1486 1486 a, g dbSNP:752075581
1487 1487 c, t dbSNP:200703028
1493 1493 c, t dbSNP:754552300
1494 1494 a, g dbSNP:753335393
1498 1498 c, t dbSNP:766107319
1499 1499 c, g dbSNP:368371587
1502 1502 a, g dbSNP:376385318
1504 1504 a, g dbSNP:772868096
1511 1511 c, g dbSNP:767226139
1514 1514 a, g dbSNP:761630312
1531 1531 c, t dbSNP:774493813
1532 1532 a, g dbSNP:768698995
1539 1539 a, g dbSNP:749427374
1548 1548 c, t dbSNP:775400975
1552 1552 c, t dbSNP:375040006
1561 1561 a, g dbSNP:1088056
1566 1566 c, t dbSNP:569786818
1574 1574 a, g dbSNP:746100459
1577 1577 c, t dbSNP:149274966
1582 1582 c, t dbSNP:757625044
1587 1587 -, tt dbSNP:753188234
1589 1589 a, g dbSNP:747372712
1595 1595 c, g dbSNP:369166616
1606 1606 c, t dbSNP:141063383
1609 1609 c, t dbSNP:753432326
1612 1612 -, t dbSNP:765877989
1617 1617 a, t dbSNP:569790367
1625 1625 c, t dbSNP:779449153
1626 1626 a, g, t dbSNP:750045383
1628 1628 c, g dbSNP:767272170
1636 1636 a, g dbSNP:761756850
1648 1648 a, g dbSNP:200237437
1650 1650 c, t dbSNP:764166431
1662 1662 -, taa dbSNP:759933022
1666 1666 c, g, t dbSNP:528229273
1671 1671 c, t dbSNP:761078557
1676 1676 c, t dbSNP:769778561
1680 1680 a, c dbSNP:759595881
1686 1686 a, c dbSNP:776786171
1688 1688 c, g, t dbSNP:371151244
1689 1689 a, g, t dbSNP:377706283
1691 1691 a, t dbSNP:374947245
1710 1710 c, t dbSNP:567122609
1742 1742 a, g dbSNP:12237092
1756 1756 g, t dbSNP:2783013
1770 1770 a, g dbSNP:549202876
1786 1786 g, t dbSNP:777288530
1795 1795 a, g dbSNP:2783012
1816 1816 a, g dbSNP:185200099
1822 1822 c, t dbSNP:146530591
1832 1832 a, g dbSNP:544252743
1863 1863 g, t dbSNP:376488477
1864 1864 a, t dbSNP:532566386
1874 1874 a, g dbSNP:529799412
1886 1886 c, t dbSNP:565538200
1894 1894 a, g dbSNP:540932744
1896 1896 c, t dbSNP:73440933
1903 1903 a, g dbSNP:752566086
1906 1906 a, t dbSNP:554853657
1931 1931 a, g dbSNP:181860755
1957 1957 -, t dbSNP:200583482
1991 1991 a, g dbSNP:575224185
2016 2016 a, t dbSNP:557041088
2036 2036 c, t dbSNP:765027504
2065 2065 a, c dbSNP:538212249
2080 2080 a, g dbSNP:111422595
2102 2102 a, g dbSNP:754824201
2124 2124 a, g dbSNP:552799922
2236 2236 c, t dbSNP:534596143
2250 2250 a, g dbSNP:567258799
2285 2285 a, t dbSNP:531994987
2299 2299 g, t dbSNP:548883941
2311 2311 a, g dbSNP:576366741
2318 2318 c, t dbSNP:767671918
2324 2324 -, g dbSNP:34400956
2327 2327 a, g dbSNP:189808047
2351 2351 a, g dbSNP:564511317
2363 2363 c, t dbSNP:569221303
2435 2435 g, t dbSNP:148832592
2447 2447 c, t dbSNP:759185397
2460 2460 c, t dbSNP:114297800
2470 2470 a, g dbSNP:565278649
2485 2485 a, g dbSNP:80172172
2508 2508 c, t dbSNP:149684050
2523 2523 c, t dbSNP:15540
2524 2524 a, t dbSNP:773703201
2530 2530 c, g dbSNP:762068701
2549 2549 c, t dbSNP:774314112
2562 2562 a, g dbSNP:561651779
2569 2569 a, c dbSNP:3739526
2657 2657 c, g dbSNP:575810513
2672 2672 a, g dbSNP:563194682
2694 2694 c, t dbSNP:544706380
2706 2706 g, t dbSNP:41272887
2712 2712 a, g dbSNP:184151041
2735 2735 c, t dbSNP:534344622
2784 2784 g, t dbSNP:375528640
2820 2820 a, c, g dbSNP:573825931
2838 2838 a, g dbSNP:554902773
2852 2852 a, g dbSNP:769768176
2862 2862 c, t dbSNP:191690136
2907 2907 a, g dbSNP:536808404
2954 2954 c, t dbSNP:539764106
2974 2974 c, t dbSNP:777032641
2981 2981 a, c dbSNP:569838922
2992 2992 c, t dbSNP:13691
2994 2994 a, g dbSNP:539123521
2998 2998 g, t dbSNP:144871912
3021 3021 a, g dbSNP:780309291
3054 3054 a, c, t dbSNP:9103
3085 3085 a, g dbSNP:777272230
3100 3100 a, t dbSNP:372145469
3102 3102 c, t dbSNP:528960247
3117 3117 a, t dbSNP:141012074
3178 3178 a, c dbSNP:561388608
3196 3196 a, g dbSNP:549660498
3256 3256 c, t dbSNP:530959276
3268 3268 a, g dbSNP:150702046
3271 3271 c, t dbSNP:747642965
3303 3303 a, t dbSNP:545232414

Target ORF information:

RefSeq Version NM_001256054
Organism Homo sapiens (human)
Definition Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001256054

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
1321
1381
1441
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAATGCCA TCAGCTCACA CTTGCAAACC TGTGGCTGTT CCGTTGTAGT AGGTAGCAGT
GCAGAGAAAG TAAATAAGAT AGTCAGAACA TTATGCCTTT TTCTGACTCC AGCAGAGAGA
AAATGCTCCA GGTTATGTGA AGCAGAATCA TCATTTAAAT ATGAGTCAGG GCTCTTTGTA
CAAGGCCTGC TAAAGGATTC AACTGGAAGC TTTGTGCTGC CTTTCCGGCA AGTCATGTAT
GCTCCATATC CCACCACACA CATAGATGTG GATGTCAATA CTGTGAAGCA GATGCCACCC
TGTCATGAAC ATATTTATAA TCAGCGTAGA TACATGAGAT CCGAGCTGAC AGCCTTCTGG
AGAGCCACTT CAGAAGAAGA CATGGCTCAG GATACGATCA TCTACACTGA CGAAAGCTTT
ACTCCTGATT TGAATATTTT TCAAGATGTC TTACACAGAG ACACTCTAGT GAAAGCCTTC
CTGGATCAGG TCTTTCAGCT GAAACCTGGC TTATCTCTCA GAAGTACTTT CCTTGCACAG
TTTCTACTTG TCCTTCACAG AAAAGCCTTG ACACTAATAA AATATATAGA AGACGATACG
CAGAAGGGAA AAAAGCCCTT TAAATCTCTT CGGAACCTGA AGATAGACCT TGATTTAACA
GCAGAGGGCG ATCTTAACAT AATAATGGCT CTGGCTGAGA AAATTAAACC AGGCCTACAC
TCTTTTATCT TTGGAAGACC TTTCTACACT AGTGTGCAAG AACGAGATGT TCTAATGACT
TTTTAA

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

CloneID OHu23067
Accession Version NM_018325.4
Sequence Information ORF Nucleotide Sequence (Length: 1446bp)
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 11-JUL-2015
Organism Homo sapiens (human)
Product protein C9orf72 isoform a
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG718065.1, AK291425.1, BC068445.1, BC020851.2, BC039112.1, BQ777139.1 and AL832229.1. On Feb 7, 2015 this sequence version replaced gi:365906242. Summary: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Both variants 2 and 3 encode the same protein. 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 :: AL832229.1, BC068445.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##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
1321
1381
1441
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAATGCCA TCAGCTCACA CTTGCAAACC TGTGGCTGTT CCGTTGTAGT AGGTAGCAGT
GCAGAGAAAG TAAATAAGAT AGTCAGAACA TTATGCCTTT TTCTGACTCC AGCAGAGAGA
AAATGCTCCA GGTTATGTGA AGCAGAATCA TCATTTAAAT ATGAGTCAGG GCTCTTTGTA
CAAGGCCTGC TAAAGGATTC AACTGGAAGC TTTGTGCTGC CTTTCCGGCA AGTCATGTAT
GCTCCATATC CCACCACACA CATAGATGTG GATGTCAATA CTGTGAAGCA GATGCCACCC
TGTCATGAAC ATATTTATAA TCAGCGTAGA TACATGAGAT CCGAGCTGAC AGCCTTCTGG
AGAGCCACTT CAGAAGAAGA CATGGCTCAG GATACGATCA TCTACACTGA CGAAAGCTTT
ACTCCTGATT TGAATATTTT TCAAGATGTC TTACACAGAG ACACTCTAGT GAAAGCCTTC
CTGGATCAGG TCTTTCAGCT GAAACCTGGC TTATCTCTCA GAAGTACTTT CCTTGCACAG
TTTCTACTTG TCCTTCACAG AAAAGCCTTG ACACTAATAA AATATATAGA AGACGATACG
CAGAAGGGAA AAAAGCCCTT TAAATCTCTT CGGAACCTGA AGATAGACCT TGATTTAACA
GCAGAGGGCG ATCTTAACAT AATAATGGCT CTGGCTGAGA AAATTAAACC AGGCCTACAC
TCTTTTATCT TTGGAAGACC TTTCTACACT AGTGTGCAAG AACGAGATGT TCTAATGACT
TTTTAA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_060795.1
CDS108..1553
Misc Feature(1)84..86(+)
Misc Feature(2)285..1082(+)
Exon (1)1..63
Gene:C9orf72
Gene Synonym:
Exon (2)64..551
Gene:C9orf72
Gene Synonym:
Exon (3)552..611
Gene:C9orf72
Gene Synonym:
Exon (4)612..707
Gene:C9orf72
Gene Synonym:
Exon (5)708..772
Gene:C9orf72
Gene Synonym:
Exon (6)773..845
Gene:C9orf72
Gene Synonym:
Exon (7)846..962
Gene:C9orf72
Gene Synonym:
Exon (8)963..1198
Gene:C9orf72
Gene Synonym:
Exon (9)1199..1256
Gene:C9orf72
Gene Synonym:
Exon (10)1257..1366
Gene:C9orf72
Gene Synonym:
Exon (11)1367..3243
Gene:C9orf72
Gene Synonym:
Translation
Position Chain Variation Link
64 64 a, g, t dbSNP:773831755
67 67 c, t dbSNP:757329918
71 71 c, t dbSNP:371125601
72 72 a, g dbSNP:532143003
77 77 a, g dbSNP:780142238
81 81 a, g dbSNP:10757668
83 83 a, t dbSNP:746005912
86 86 a, c dbSNP:77791104
88 88 a, g dbSNP:781403258
89 89 a, t dbSNP:77042371
100 100 a, g dbSNP:548524458
109 109 g, t dbSNP:751838609
112 112 c, t dbSNP:149095486
113 113 a, g dbSNP:138028443
119 119 -, ctt dbSNP:746135276
123 123 c, t dbSNP:752995172
128 128 a, g dbSNP:370462123
130 130 c, t dbSNP:377404268
131 131 a, g dbSNP:150335394
135 135 c, g dbSNP:749975238
139 139 c, t dbSNP:767044830
176 176 a, t dbSNP:761175698
178 178 c, t dbSNP:373581954
189 189 a, g dbSNP:748020371
193 193 c, t dbSNP:140145837
198 198 g, t dbSNP:768123891
200 200 c, t dbSNP:151145224
202 202 a, g dbSNP:775414064
203 203 c, t dbSNP:769904411
228 228 a, g dbSNP:745772901
229 229 g, t dbSNP:781240158
236 236 c, t dbSNP:530933212
243 243 a, g, t dbSNP:778062788
246 246 a, c, g, t dbSNP:181815263
251 251 a, g dbSNP:755295447
253 253 c, g dbSNP:201250307
255 255 a, g dbSNP:766734628
259 259 a, g dbSNP:761388023
261 261 g, t dbSNP:144163719
267 267 c, t dbSNP:199871012
296 296 a, c dbSNP:763867472
303 303 a, g, t dbSNP:373709108
313 313 a, g dbSNP:575487786
314 314 a, g dbSNP:775469154
317 317 a, g dbSNP:765159535
341 341 g, t dbSNP:759356207
343 343 c, g dbSNP:776723269
349 349 a, g dbSNP:770707789
362 362 c, t dbSNP:747181422
366 366 c, g, t dbSNP:565771464
368 368 a, g dbSNP:748399586
370 370 c, g dbSNP:779057588
373 373 a, g dbSNP:755346261
374 374 a, g dbSNP:749583596
377 377 a, g dbSNP:145418675
390 390 a, g dbSNP:547548706
395 395 a, c, g dbSNP:147752518
404 404 c, t dbSNP:112179438
416 416 c, g dbSNP:369687342
427 427 a, g dbSNP:145645318
428 428 c, t dbSNP:757946176
434 434 a, g, t dbSNP:764924843
436 436 -, a dbSNP:781421755
437 437 c, t dbSNP:759411226
442 442 c, t dbSNP:776286891
447 447 a, g dbSNP:373008422
452 452 a, g dbSNP:760497690
471 471 a, c dbSNP:773159639
479 479 c, t dbSNP:772066850
480 480 c, g dbSNP:372541138
485 485 a, t dbSNP:748164180
491 491 c, t dbSNP:111392681
494 494 a, g dbSNP:376972290
504 504 a, g dbSNP:749708068
511 511 -, t dbSNP:757343343
517 517 a, g, t dbSNP:753158467
525 525 c, t dbSNP:756687033
526 526 a, g, t dbSNP:781692000
532 532 a, g dbSNP:558489073
547 547 a, g dbSNP:757995593
559 559 a, c dbSNP:768913769
569 569 c, t dbSNP:188263738
574 574 -, aga dbSNP:753657530
575 575 c, g, t dbSNP:770077991
584 584 a, g dbSNP:374411112
588 588 c, g dbSNP:781558367
590 590 c, t dbSNP:772174049
596 596 a, g dbSNP:771563218
600 600 a, g dbSNP:370135790
601 601 c, t dbSNP:200598638
603 603 a, g dbSNP:368117087
606 606 c, g dbSNP:754495907
612 612 c, g dbSNP:763962885
623 623 c, t dbSNP:758413334
630 630 a, g dbSNP:376288435
633 633 c, g dbSNP:765439616
635 635 c, t dbSNP:34608611
642 642 a, g dbSNP:777179184
651 651 c, t dbSNP:373783122
654 654 a, g dbSNP:761060005
675 675 a, c, g dbSNP:772628791
676 676 g, t dbSNP:748806632
680 680 a, g dbSNP:775042273
687 687 a, c dbSNP:769370663
693 693 c, g dbSNP:748325535
695 695 -, tct dbSNP:760314365
710 710 a, g dbSNP:748151371
711 711 c, g dbSNP:778655311
714 714 a, g dbSNP:755110393
721 721 a, t dbSNP:753959942
722 722 a, t dbSNP:556107429
725 725 c, t dbSNP:756381310
726 726 -, aat dbSNP:113299382
727 727 a, g dbSNP:17769294
735 735 c, g dbSNP:767953886
736 736 a, g dbSNP:762036455
742 742 c, g dbSNP:752121988
743 743 g, t dbSNP:570594678
750 750 c, t dbSNP:113939233
751 751 a, c, g dbSNP:759114309
755 755 c, t dbSNP:149801256
772 772 a, g dbSNP:111621456
777 777 a, g dbSNP:139743072
789 789 c, t dbSNP:147034723
806 806 g, t dbSNP:74619849
809 809 c, t dbSNP:750678579
810 810 a, g dbSNP:781214485
813 813 a, g, t dbSNP:751866003
815 815 a, g dbSNP:764644027
816 816 a, g dbSNP:763431979
818 818 a, t dbSNP:555236783
822 822 a, t dbSNP:765907344
827 827 a, t dbSNP:760132434
846 846 a, c dbSNP:757408861
848 848 a, g dbSNP:747458864
851 851 c, g dbSNP:747748716
859 859 a, t dbSNP:778084380
872 872 a, g dbSNP:758724401
884 884 c, g dbSNP:753228403
889 889 a, g dbSNP:765663452
891 891 -, t dbSNP:749858364
903 903 c, t dbSNP:755714382
906 906 a, g dbSNP:749883850
909 909 a, g dbSNP:767245865
916 916 c, t dbSNP:545433336
920 920 a, g dbSNP:774015166
926 926 a, g dbSNP:764000894
929 929 c, t dbSNP:762776605
931 931 a, g dbSNP:775575174
946 946 c, t dbSNP:769851288
969 969 a, g dbSNP:747477332
971 971 c, t dbSNP:773487371
977 977 c, t dbSNP:10122902
981 981 a, g dbSNP:201261393
994 994 a, g dbSNP:370472336
999 999 c, g dbSNP:769024683
1003 1003 c, t dbSNP:35726666
1008 1008 a, g dbSNP:780733794
1029 1029 a, c dbSNP:756724177
1045 1045 a, g dbSNP:139502204
1049 1049 g, t dbSNP:777628989
1058 1058 a, g dbSNP:758101832
1059 1059 a, g dbSNP:754395436
1062 1062 c, t dbSNP:764976547
1067 1067 a, c dbSNP:759330431
1078 1078 a, g dbSNP:753735631
1080 1080 a, g dbSNP:766277022
1084 1084 a, t dbSNP:539512959
1087 1087 a, g dbSNP:374369837
1089 1089 c, t dbSNP:370756199
1092 1092 c, t dbSNP:773251849
1093 1093 a, g dbSNP:201961571
1097 1097 a, t dbSNP:538012382
1101 1101 a, g dbSNP:146043466
1103 1103 c, g dbSNP:774506585
1108 1108 c, g dbSNP:141784061
1109 1109 c, g, t dbSNP:780494226
1110 1110 a, g dbSNP:770323658
1117 1117 c, t dbSNP:746566978
1122 1122 c, t dbSNP:373419325
1125 1125 c, t dbSNP:371377376
1127 1127 c, g dbSNP:757944597
1133 1133 a, c dbSNP:752423770
1147 1147 -, aga dbSNP:770353129
1149 1149 a, g dbSNP:576983400
1156 1156 a, g dbSNP:754736903
1157 1157 c, g dbSNP:753650999
1162 1162 c, g, t dbSNP:557931293
1168 1168 -, acgatcat dbSNP:568888933
1168 1168 c, t dbSNP:750317119
1171 1171 a, g dbSNP:556983155
1173 1173 a, c dbSNP:766352238
1178 1178 c, t dbSNP:767605056
1179 1179 a, g, t dbSNP:774440971
1182 1182 a, g dbSNP:764371434
1184 1184 c, t dbSNP:763285533
1185 1185 g, t dbSNP:775901504
1203 1203 a, g dbSNP:550153466
1211 1211 a, g dbSNP:199900665
1218 1218 a, t dbSNP:773877285
1223 1223 c, g dbSNP:148034295
1229 1229 c, t dbSNP:748989629
1231 1231 c, g, t dbSNP:755906381
1241 1241 a, g dbSNP:192859049
1243 1243 c, t dbSNP:781164075
1256 1256 c, g dbSNP:757165131
1280 1280 a, g dbSNP:775188943
1284 1284 a, c, t dbSNP:2643806
1287 1287 a, g dbSNP:745710266
1291 1291 a, g dbSNP:185358772
1295 1295 a, t dbSNP:780934681
1298 1298 a, c, g dbSNP:746990973
1305 1305 -, ca dbSNP:778862260
1311 1311 c, t dbSNP:811641
1313 1313 a, c, g dbSNP:770228283
1314 1314 c, t dbSNP:758512117
1317 1317 g, t dbSNP:541965231
1332 1332 a, g dbSNP:779339076
1336 1336 c, t dbSNP:755216584
1337 1337 a, g dbSNP:530261789
1340 1340 a, c, g dbSNP:34602100
1345 1345 c, t dbSNP:760887239
1346 1346 a, g dbSNP:750942348
1352 1352 c, t dbSNP:767903441
1355 1355 a, c dbSNP:762581307
1361 1361 c, t dbSNP:201734930
1365 1365 a, g dbSNP:769477910
1366 1366 c, t dbSNP:759218702
1368 1368 a, c dbSNP:774370838
1369 1369 a, c dbSNP:768858247
1370 1370 a, g dbSNP:812272
1373 1373 g, t dbSNP:780380295
1374 1374 g, t dbSNP:756267679
1382 1382 a, g dbSNP:2453563
1383 1383 c, t dbSNP:190477376
1385 1385 a, c dbSNP:757569780
1391 1391 a, g dbSNP:752075581
1392 1392 c, t dbSNP:200703028
1398 1398 c, t dbSNP:754552300
1399 1399 a, g dbSNP:753335393
1403 1403 c, t dbSNP:766107319
1404 1404 c, g dbSNP:368371587
1407 1407 a, g dbSNP:376385318
1409 1409 a, g dbSNP:772868096
1416 1416 c, g dbSNP:767226139
1419 1419 a, g dbSNP:761630312
1436 1436 c, t dbSNP:774493813
1437 1437 a, g dbSNP:768698995
1444 1444 a, g dbSNP:749427374
1453 1453 c, t dbSNP:775400975
1457 1457 c, t dbSNP:375040006
1466 1466 a, g dbSNP:1088056
1471 1471 c, t dbSNP:569786818
1479 1479 a, g dbSNP:746100459
1482 1482 c, t dbSNP:149274966
1487 1487 c, t dbSNP:757625044
1492 1492 -, tt dbSNP:753188234
1494 1494 a, g dbSNP:747372712
1500 1500 c, g dbSNP:369166616
1511 1511 c, t dbSNP:141063383
1514 1514 c, t dbSNP:753432326
1517 1517 -, t dbSNP:765877989
1522 1522 a, t dbSNP:569790367
1530 1530 c, t dbSNP:779449153
1531 1531 a, g, t dbSNP:750045383
1533 1533 c, g dbSNP:767272170
1541 1541 a, g dbSNP:761756850
1553 1553 a, g dbSNP:200237437
1555 1555 c, t dbSNP:764166431
1567 1567 -, taa dbSNP:759933022
1571 1571 c, g, t dbSNP:528229273
1576 1576 c, t dbSNP:761078557
1581 1581 c, t dbSNP:769778561
1585 1585 a, c dbSNP:759595881
1591 1591 a, c dbSNP:776786171
1593 1593 c, g, t dbSNP:371151244
1594 1594 a, g, t dbSNP:377706283
1596 1596 a, t dbSNP:374947245
1615 1615 c, t dbSNP:567122609
1647 1647 a, g dbSNP:12237092
1661 1661 g, t dbSNP:2783013
1675 1675 a, g dbSNP:549202876
1691 1691 g, t dbSNP:777288530
1700 1700 a, g dbSNP:2783012
1721 1721 a, g dbSNP:185200099
1727 1727 c, t dbSNP:146530591
1737 1737 a, g dbSNP:544252743
1768 1768 g, t dbSNP:376488477
1769 1769 a, t dbSNP:532566386
1779 1779 a, g dbSNP:529799412
1791 1791 c, t dbSNP:565538200
1799 1799 a, g dbSNP:540932744
1801 1801 c, t dbSNP:73440933
1808 1808 a, g dbSNP:752566086
1811 1811 a, t dbSNP:554853657
1836 1836 a, g dbSNP:181860755
1862 1862 -, t dbSNP:200583482
1896 1896 a, g dbSNP:575224185
1921 1921 a, t dbSNP:557041088
1941 1941 c, t dbSNP:765027504
1970 1970 a, c dbSNP:538212249
1985 1985 a, g dbSNP:111422595
2007 2007 a, g dbSNP:754824201
2029 2029 a, g dbSNP:552799922
2141 2141 c, t dbSNP:534596143
2155 2155 a, g dbSNP:567258799
2190 2190 a, t dbSNP:531994987
2204 2204 g, t dbSNP:548883941
2216 2216 a, g dbSNP:576366741
2223 2223 c, t dbSNP:767671918
2229 2229 -, g dbSNP:34400956
2232 2232 a, g dbSNP:189808047
2256 2256 a, g dbSNP:564511317
2268 2268 c, t dbSNP:569221303
2340 2340 g, t dbSNP:148832592
2352 2352 c, t dbSNP:759185397
2365 2365 c, t dbSNP:114297800
2375 2375 a, g dbSNP:565278649
2390 2390 a, g dbSNP:80172172
2413 2413 c, t dbSNP:149684050
2428 2428 c, t dbSNP:15540
2429 2429 a, t dbSNP:773703201
2435 2435 c, g dbSNP:762068701
2454 2454 c, t dbSNP:774314112
2467 2467 a, g dbSNP:561651779
2474 2474 a, c dbSNP:3739526
2562 2562 c, g dbSNP:575810513
2577 2577 a, g dbSNP:563194682
2599 2599 c, t dbSNP:544706380
2611 2611 g, t dbSNP:41272887
2617 2617 a, g dbSNP:184151041
2640 2640 c, t dbSNP:534344622
2689 2689 g, t dbSNP:375528640
2725 2725 a, c, g dbSNP:573825931
2743 2743 a, g dbSNP:554902773
2757 2757 a, g dbSNP:769768176
2767 2767 c, t dbSNP:191690136
2812 2812 a, g dbSNP:536808404
2859 2859 c, t dbSNP:539764106
2879 2879 c, t dbSNP:777032641
2886 2886 a, c dbSNP:569838922
2897 2897 c, t dbSNP:13691
2899 2899 a, g dbSNP:539123521
2903 2903 g, t dbSNP:144871912
2926 2926 a, g dbSNP:780309291
2959 2959 a, c, t dbSNP:9103
2990 2990 a, g dbSNP:777272230
3005 3005 a, t dbSNP:372145469
3007 3007 c, t dbSNP:528960247
3022 3022 a, t dbSNP:141012074
3083 3083 a, c dbSNP:561388608
3101 3101 a, g dbSNP:549660498
3161 3161 c, t dbSNP:530959276
3173 3173 a, g dbSNP:150702046
3176 3176 c, t dbSNP:747642965
3208 3208 a, t dbSNP:545232414

Target ORF information:

RefSeq Version NM_018325
Organism Homo sapiens (human)
Definition Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_018325

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
1321
1381
1441
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAATGCCA TCAGCTCACA CTTGCAAACC TGTGGCTGTT CCGTTGTAGT AGGTAGCAGT
GCAGAGAAAG TAAATAAGAT AGTCAGAACA TTATGCCTTT TTCTGACTCC AGCAGAGAGA
AAATGCTCCA GGTTATGTGA AGCAGAATCA TCATTTAAAT ATGAGTCAGG GCTCTTTGTA
CAAGGCCTGC TAAAGGATTC AACTGGAAGC TTTGTGCTGC CTTTCCGGCA AGTCATGTAT
GCTCCATATC CCACCACACA CATAGATGTG GATGTCAATA CTGTGAAGCA GATGCCACCC
TGTCATGAAC ATATTTATAA TCAGCGTAGA TACATGAGAT CCGAGCTGAC AGCCTTCTGG
AGAGCCACTT CAGAAGAAGA CATGGCTCAG GATACGATCA TCTACACTGA CGAAAGCTTT
ACTCCTGATT TGAATATTTT TCAAGATGTC TTACACAGAG ACACTCTAGT GAAAGCCTTC
CTGGATCAGG TCTTTCAGCT GAAACCTGGC TTATCTCTCA GAAGTACTTT CCTTGCACAG
TTTCTACTTG TCCTTCACAG AAAAGCCTTG ACACTAATAA AATATATAGA AGACGATACG
CAGAAGGGAA AAAAGCCCTT TAAATCTCTT CGGAACCTGA AGATAGACCT TGATTTAACA
GCAGAGGGCG ATCTTAACAT AATAATGGCT CTGGCTGAGA AAATTAAACC AGGCCTACAC
TCTTTTATCT TTGGAAGACC TTTCTACACT AGTGTGCAAG AACGAGATGT TCTAATGACT
TTTTAA

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

CloneID OHu22712
Accession Version NM_145005.6
Sequence Information ORF Nucleotide Sequence (Length: 669bp)
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 11-JUL-2015
Organism Homo sapiens (human)
Product protein C9orf72 isoform b
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BQ068108.1, AK057806.1, BC020851.2, DA802421.1 and AI141996.1. On Feb 7, 2015 this sequence version replaced gi:365906241. Summary: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]. Transcript Variant: This variant (1) lacks multiple exons in the central and 3' coding regions, and its 3' terminal exon extends beyond a splice site that is used in variant 3 . This results in a novel 3' UTR, compared to variant 3. It encodes isoform b which is significantly shorter, and its C-terminal amino acid is distinct, compared to isoform a. 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 :: AK057806.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAAGTAA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_659442.2
CDS125..793
Misc Feature(1)101..103(+)
Misc Feature(2)302..>745(+)
Exon (1)1..80
Gene:C9orf72
Gene Synonym:
Exon (2)81..568
Gene:C9orf72
Gene Synonym:
Exon (3)569..628
Gene:C9orf72
Gene Synonym:
Exon (4)629..724
Gene:C9orf72
Gene Synonym:
Exon (5)725..1950
Gene:C9orf72
Gene Synonym:
Translation
Position Chain Variation Link
13 13 c, g dbSNP:779583741
18 18 c, g dbSNP:550178688
39 39 c, t dbSNP:41272893
51 51 a, g dbSNP:756998583
52 52 -, agttccgc dbSNP:546040555
56 56 c, t dbSNP:570970915
58 58 a, g dbSNP:564218190
81 81 a, g, t dbSNP:773831755
84 84 c, t dbSNP:757329918
88 88 c, t dbSNP:371125601
89 89 a, g dbSNP:532143003
94 94 a, g dbSNP:780142238
98 98 a, g dbSNP:10757668
100 100 a, t dbSNP:746005912
103 103 a, c dbSNP:77791104
105 105 a, g dbSNP:781403258
106 106 a, t dbSNP:77042371
117 117 a, g dbSNP:548524458
126 126 g, t dbSNP:751838609
129 129 c, t dbSNP:149095486
130 130 a, g dbSNP:138028443
136 136 -, ctt dbSNP:746135276
140 140 c, t dbSNP:752995172
145 145 a, g dbSNP:370462123
147 147 c, t dbSNP:377404268
148 148 a, g dbSNP:150335394
152 152 c, g dbSNP:749975238
156 156 c, t dbSNP:767044830
193 193 a, t dbSNP:761175698
195 195 c, t dbSNP:373581954
206 206 a, g dbSNP:748020371
210 210 c, t dbSNP:140145837
215 215 g, t dbSNP:768123891
217 217 c, t dbSNP:151145224
219 219 a, g dbSNP:775414064
220 220 c, t dbSNP:769904411
245 245 a, g dbSNP:745772901
246 246 g, t dbSNP:781240158
253 253 c, t dbSNP:530933212
260 260 a, g, t dbSNP:778062788
263 263 a, c, g, t dbSNP:181815263
268 268 a, g dbSNP:755295447
270 270 c, g dbSNP:201250307
272 272 a, g dbSNP:766734628
276 276 a, g dbSNP:761388023
278 278 g, t dbSNP:144163719
284 284 c, t dbSNP:199871012
313 313 a, c dbSNP:763867472
320 320 a, g, t dbSNP:373709108
330 330 a, g dbSNP:575487786
331 331 a, g dbSNP:775469154
334 334 a, g dbSNP:765159535
358 358 g, t dbSNP:759356207
360 360 c, g dbSNP:776723269
366 366 a, g dbSNP:770707789
379 379 c, t dbSNP:747181422
383 383 c, g, t dbSNP:565771464
385 385 a, g dbSNP:748399586
387 387 c, g dbSNP:779057588
390 390 a, g dbSNP:755346261
391 391 a, g dbSNP:749583596
394 394 a, g dbSNP:145418675
407 407 a, g dbSNP:547548706
412 412 a, c, g dbSNP:147752518
421 421 c, t dbSNP:112179438
433 433 c, g dbSNP:369687342
444 444 a, g dbSNP:145645318
445 445 c, t dbSNP:757946176
451 451 a, g, t dbSNP:764924843
453 453 -, a dbSNP:781421755
454 454 c, t dbSNP:759411226
459 459 c, t dbSNP:776286891
464 464 a, g dbSNP:373008422
469 469 a, g dbSNP:760497690
488 488 a, c dbSNP:773159639
496 496 c, t dbSNP:772066850
497 497 c, g dbSNP:372541138
502 502 a, t dbSNP:748164180
508 508 c, t dbSNP:111392681
511 511 a, g dbSNP:376972290
521 521 a, g dbSNP:749708068
528 528 -, t dbSNP:757343343
534 534 a, g, t dbSNP:753158467
542 542 c, t dbSNP:756687033
543 543 a, g, t dbSNP:781692000
549 549 a, g dbSNP:558489073
564 564 a, g dbSNP:757995593
576 576 a, c dbSNP:768913769
586 586 c, t dbSNP:188263738
591 591 -, aga dbSNP:753657530
592 592 c, g, t dbSNP:770077991
601 601 a, g dbSNP:374411112
605 605 c, g dbSNP:781558367
607 607 c, t dbSNP:772174049
613 613 a, g dbSNP:771563218
617 617 a, g dbSNP:370135790
618 618 c, t dbSNP:200598638
620 620 a, g dbSNP:368117087
623 623 c, g dbSNP:754495907
629 629 c, g dbSNP:763962885
640 640 c, t dbSNP:758413334
647 647 a, g dbSNP:376288435
650 650 c, g dbSNP:765439616
652 652 c, t dbSNP:34608611
659 659 a, g dbSNP:777179184
668 668 c, t dbSNP:373783122
671 671 a, g dbSNP:761060005
692 692 a, c, g dbSNP:772628791
693 693 g, t dbSNP:748806632
697 697 a, g dbSNP:775042273
704 704 a, c dbSNP:769370663
710 710 c, g dbSNP:748325535
712 712 -, tct dbSNP:760314365
727 727 a, g dbSNP:748151371
728 728 c, g dbSNP:778655311
731 731 a, g dbSNP:755110393
738 738 a, t dbSNP:753959942
739 739 a, t dbSNP:556107429
742 742 c, t dbSNP:756381310
743 743 -, aat dbSNP:113299382
744 744 a, g dbSNP:17769294
752 752 c, g dbSNP:767953886
753 753 a, g dbSNP:762036455
759 759 c, g dbSNP:752121988
760 760 g, t dbSNP:570594678
767 767 c, t dbSNP:113939233
768 768 a, c, g dbSNP:759114309
772 772 c, t dbSNP:149801256
789 789 a, g dbSNP:111621456
791 791 -, taag dbSNP:769062362
802 802 c, t dbSNP:770623181
803 803 g, t dbSNP:760292121
819 819 a, g dbSNP:772703414
821 821 a, g dbSNP:141579586
848 848 a, g dbSNP:759384295
852 852 c, t dbSNP:534400045
873 873 -, taac dbSNP:773320835
880 880 c, t dbSNP:540323320
903 903 -, aca dbSNP:397721815
904 904 -, aca dbSNP:72535331
905 905 -, aca dbSNP:34119678
906 906 -, aca dbSNP:3063748
910 910 c, t dbSNP:566903555
911 911 a, g dbSNP:113835171
962 962 a, g dbSNP:548873026
971 971 -, g dbSNP:34098521
979 979 c, t dbSNP:72727517
982 982 c, g dbSNP:530382689
1018 1018 a, t dbSNP:568893115
1074 1074 g, t dbSNP:772319618
1094 1094 c, t dbSNP:111291984
1110 1110 a, t dbSNP:532281381
1131 1131 a, g dbSNP:761917781
1157 1157 a, c dbSNP:557835944
1206 1206 c, t dbSNP:564985448
1234 1234 c, t dbSNP:145979709
1242 1242 c, t dbSNP:768575831
1247 1247 g, t dbSNP:538585248
1250 1250 a, c dbSNP:149398015
1282 1282 c, t dbSNP:181689797
1292 1292 -, a dbSNP:549765761
1293 1293 c, t dbSNP:542532552
1312 1312 -, acctaatgt dbSNP:772869594
1313 1313 c, g dbSNP:748306604
1323 1323 a, g dbSNP:774359
1324 1324 c, g dbSNP:780646871
1362 1362 g, t dbSNP:555979063
1363 1363 c, t dbSNP:556170858
1407 1407 a, c dbSNP:12347222
1420 1420 -, c dbSNP:35844116
1430 1430 a, t dbSNP:747539741
1446 1446 a, g dbSNP:138876353
1479 1479 c, t dbSNP:73643416
1568 1568 -, aaaga dbSNP:71746336
1573 1573 c, g dbSNP:533995553
1574 1574 a, t dbSNP:567070216
1579 1579 a, g dbSNP:188774537
1604 1604 g, t dbSNP:746278803
1630 1630 g, t dbSNP:536974910
1646 1646 c, t dbSNP:796491
1667 1667 a, g dbSNP:550638107
1698 1698 c, g dbSNP:12003690
1716 1716 c, g dbSNP:571112409
1718 1718 c, t dbSNP:751133312
1778 1778 a, g dbSNP:3849944
1786 1786 a, g dbSNP:185874833
1845 1845 -, tat dbSNP:138185777
1845 1845 c, t dbSNP:530872047
1877 1877 a, g dbSNP:542395705
1896 1896 a, g dbSNP:9969837
1929 1929 a, g dbSNP:765225376
1935 1935 c, t dbSNP:759437610
1947 1947 c, t dbSNP:753680112
1949 1949 c, t dbSNP:750737894

Target ORF information:

RefSeq Version NM_145005
Organism Homo sapiens (human)
Definition Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_145005

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAAGTAA

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