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EFHC1 EF-hand domain (C-terminal) containing 1 [Homo sapiens (human)]

Gene Symbol EFHC1
Entrez Gene ID 114327
Full Name EF-hand domain (C-terminal) containing 1
Synonyms EJM1, dJ304B14.2
General protein information
Preferred Names
EF-hand domain-containing protein 1
Names
EF-hand domain-containing protein 1
myoclonin-1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p12.3

Summary This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. lac of sum
Disorder MIM:

608815

Disorder Html: {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3);





The following EFHC1 gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the EFHC1 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
OHu08059 NM_001172420 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant C, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $439
OHu19655 NM_018100 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $379

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


CloneID OHu08059
Accession Version NM_001172420.1 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1866bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector Document: User manual_GenEZ ORF Clone Products.pdf (pdf)
Clone information Clone Map
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags Document: MSDS_GenEZ ORF Clone Products.pdf (pdf)
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 27-FEB-2014
Organism Homo sapiens (human)
Product EF-hand domain-containing protein 1 isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK297632.1, EU520261.1, AY608689.1, AL049611.24 and BQ268404.1. Summary: This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. Transcript Variant: This variant (C) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant A. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. 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 :: AK297632.1 [ECO:0000332] ##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
1501
1561
1621
1681
1741
1801
1861
ATGTTGAAAA CAGCCTTCCA CAGAAGTCAG ACGCTGAGCT ACAGGAACGG CTATGCAATT 
GTTCGACGTC CAACAGTTGG GATAGGCGGA GACCGGCTCC AGTTCAACCA GCTGTCCCAG
GCTGAGCTGG ATGAGTTGGC CAGTAAGGCA CCAGTCTTAA CTTATGGCCA ACCTAAACAA
GCCCCACCTG CGGATTTTAT TCCTGCGCAT GTGGCCTTTG ACAAAAAGGT ACTGAAATTT
GATGCCTATT TCCAAGAAGA TGTTCCTATG TCAACTGAGG AACAGTATAG GATCCGTCAG
GTGAACATTT ACTATTATCT AGAAGATGAC AGCATGTCTG TCATAGAGCC TGTTGTAGAA
AATTCTGGAA TCCTTCAAGG CAAGTTAATA AAACGCCAGC GGCTAGCCAA GAATGACCGG
GGTGACCATT ACCATTGGAA AGACCTAAAT CGAGGAATAA ACATCACAAT TTATGGCAAA
ACTTTCCGCG TTGTTGACTG TGACCAATTC ACACAGGTAT TTTTAGAAAG CCAAGGAATT
GAGTTAAATC CACCAGAGAA GATGGCTCTT GATCCTTACA CTGAACTCCG AAAACAGCCT
CTTCGTAAGT ATGTCACCCC ATCAGACTTT GATCAACTCA AGCAATTTCT CACCTTTGAC
AAACAGGTCC TTCGATTCTA TGCAATCTGG GATGATACAG ACAGCATGTA TGGTGAATGT
CGGACCTACA TCATTCATTA CTATCTTATG GATGATACGG TGGAAATTCG AGAGGTCCAC
GAACGGAATG ATGGGAGAGA TCCTTTCCCA CTCCTAATGA ACCGCCAGCG TGTGCCCAAA
GTTTTGGTGG AAAATGCAAA GAACTTCCCT CAGTGTGTGC TAGAAATCTC TGACCAAGAA
GTGTTGGAAT GGTATACTGC TAAAGACTTC ATTGTTGGGA AGTCACTCAC TATCCTTGGG
AGAACTTTCT TCATTTATGA TTGTGATCCA TTTACTCGAC GGTATTACAA AGAGAAGTTT
GGAATCACTG ATTTACCACG TATTGATGTG AGCAAGCGGG AACCACCTCC AGTAAAACAG
GAGTTGCCTC CTTATAACGG TTTTGGACTA GTGGAAGATT CTGCTCAGAA TTGTTTTGCT
CTCATTCCAA AAGCTCCAAA AAAAGACGTT ATTAAAATGC TGGTGAATGA TAACAAGGTG
CTTCGTTATT TGGCTGTACT GGAATCCCCC ATCCCAGAAG ACAAAGACCG CAGATTTGTC
TTCTCTTACT TTCTAGCTAC CGACATGATC AGTATCTTTG AGCCTCCTGT TCGCAATTCT
GGTATCATTG GGGGCAAGTA CCTTGGCAGG ACTAAAGTTG TTAAACCATA CTCTACAGTG
GACAACCCTG TCTACTATGG CCCCAGTGAC TTCTTCATTG GTGCTGTGAT TGAAGTGTTT
GGTCACCGGT TCATCATCCT TGATACAGAC GAGTATGTTT TGAAATACAT GGAGAGCAAC
GCTGCCCAGT ATTCACCAGA AGCACTCGCG TCAATTCAGA ACCATGTCCG AAAGCGAGAA
GCGCCTGCTC CAGAAGCAGA AAGCAAGCAA ACTGAAAAGG ATCCAGGCGT GCAGGAATTG
GAAGCATTAA TAGACACAAT TCAGAAGCAA CTGAAAGATC ACTCATGCAA AGACAACATT
CGTGAGGCAT TTCAAATTTA TGACAAGGAA GCTTCAGGAT ATGTGGACAG AGACATGTTC
TTTAAAATCT GTGAATCGCT TAACGTCCCA GTGGATGACT CCTTGGTTAA GGAGTTAATC
AGGATGTGCT CTCATGGAGA AGGCAAAATT AACTACTATA ACTTTGTTCG TGCTTTCTCA
AACTGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_001165891.1
CDS185..2050
Misc Feature(1)119..121(+)
Misc Feature(2)404..721(+)
Misc Feature(3)842..1204(+)
Misc Feature(4)1373..1687(+)
Misc Feature(5)1862..2044(+)
Misc Feature(6)1877..2041(+)
Misc Feature(7)1886..2026(+)
Exon (1)1..62
Gene:EFHC1
Gene Synonym:
Exon (2)63..190
Gene:EFHC1
Gene Synonym:
Exon (3)191..412
Gene:EFHC1
Gene Synonym:
Exon (4)413..700
Gene:EFHC1
Gene Synonym:
Exon (5)701..850
Gene:EFHC1
Gene Synonym:
Exon (6)851..1043
Gene:EFHC1
Gene Synonym:
Exon (7)1044..1264
Gene:EFHC1
Gene Synonym:
Exon (8)1265..1405
Gene:EFHC1
Gene Synonym:
Exon (9)1406..1619
Gene:EFHC1
Gene Synonym:
Exon (10)1620..1767
Gene:EFHC1
Gene Synonym:
Exon (11)1768..1978
Gene:EFHC1
Gene Synonym:
Exon (12)1979..5494
Gene:EFHC1
Gene Synonym:
Translation
Position Chain Variation Link
28 28 a, c dbSNP:12193402
34 34 a, g dbSNP:748066908
41 41 c, t dbSNP:562629045
58 58 g, t dbSNP:531178558
96 96 g, t dbSNP:544080694
101 101 c, t dbSNP:563856926
107 107 c, t dbSNP:574151398
118 118 g, t dbSNP:528238933
119 119 g, t dbSNP:542869364
132 132 g, t dbSNP:559845792
133 133 c, t dbSNP:753798637
156 156 a, g dbSNP:765535587
163 163 c, t dbSNP:192503387
164 164 c, g dbSNP:62407871
179 179 a, g dbSNP:145550596
180 180 c, g dbSNP:530838377
195 195 c, t dbSNP:779993809
196 196 a, t dbSNP:746911392
203 203 c, t dbSNP:375322518
204 204 a, c dbSNP:548766587
207 207 a, g dbSNP:748379264
214 214 c, g dbSNP:770050215
216 216 c, t dbSNP:200435907
217 217 a, g dbSNP:140429638
224 224 c, t dbSNP:374402088
225 225 a, g, t dbSNP:775002342
229 229 a, g dbSNP:374661532
230 230 a, g dbSNP:753381272
232 232 a, c, t dbSNP:534406651
233 233 a, g dbSNP:750032565
242 242 a, c dbSNP:557467591
244 244 a, t dbSNP:779760887
246 246 c, t dbSNP:746965960
248 248 c, t dbSNP:754931103
249 249 a, g dbSNP:202095470
251 251 a, c, t dbSNP:748229072
252 252 c, g dbSNP:773598517
255 255 c, t dbSNP:749452195
257 257 a, g dbSNP:771434258
267 267 a, t dbSNP:368839861
271 271 c, t dbSNP:372240827
272 272 a, g dbSNP:760025678
278 278 c, t dbSNP:374661645
287 287 c, t dbSNP:370815762
302 302 a, c dbSNP:776050914
303 303 a, t dbSNP:761412395
311 311 c, g dbSNP:764616948
314 314 a, g dbSNP:750083920
321 321 c, t dbSNP:757990962
326 326 a, g dbSNP:766220714
337 337 a, g dbSNP:145367062
349 349 c, t dbSNP:754914536
350 350 a, g dbSNP:781167987
352 352 c, t dbSNP:556879197
353 353 c, t dbSNP:11552772
356 356 a, c dbSNP:149055334
366 366 c, t dbSNP:777941837
369 369 c, t dbSNP:749578871
375 375 c, t dbSNP:557599173
376 376 a, g dbSNP:149627167
383 383 -, ttc dbSNP:748026322
390 390 c, t dbSNP:145102896
393 393 a, g dbSNP:543160745
399 399 a, c dbSNP:776099549
413 413 c, g dbSNP:780229439
432 432 a, g dbSNP:368992606
435 435 g, t dbSNP:112707119
436 436 c, t dbSNP:150739716
437 437 c, t dbSNP:769148860
452 452 a, g dbSNP:772750016
454 454 a, g dbSNP:762430362
457 457 a, c dbSNP:770380228
460 460 c, t dbSNP:371542229
466 466 a, g dbSNP:774056218
468 468 a, g dbSNP:759050400
471 471 a, g dbSNP:371610025
474 474 -, g dbSNP:760974244
477 477 c, t dbSNP:201616140
478 478 c, t dbSNP:760730507
479 479 c, t dbSNP:764096785
497 497 c, t dbSNP:753777140
498 498 a, c, g dbSNP:757440981
501 501 a, t dbSNP:750674206
528 528 c, t dbSNP:376050123
553 553 a, g dbSNP:780537898
560 560 c, g dbSNP:747306226
578 578 c, t dbSNP:200375854
579 579 a, c, g, t dbSNP:191656603
582 582 a, g dbSNP:770439499
584 584 c, t dbSNP:373625101
585 585 a, g, t dbSNP:745600475
590 590 a, g dbSNP:775400514
591 591 a, c dbSNP:760566738
595 595 a, g dbSNP:763937631
602 602 c, g, t dbSNP:3804506
607 607 g, t dbSNP:765420207
611 611 c, t dbSNP:112800954
613 613 a, t dbSNP:758688257
618 618 a, c dbSNP:766487516
620 620 c, t dbSNP:376746879
621 621 g, t dbSNP:755368747
626 626 a, g dbSNP:781476033
630 630 a, t dbSNP:748710079
633 633 a, g dbSNP:756609412
635 635 c, t dbSNP:778524883
646 646 c, g dbSNP:745345027
647 647 a, g dbSNP:137852779
652 652 a, g dbSNP:775034647
653 653 a, g dbSNP:369777400
662 662 -, a dbSNP:770877274
671 671 c, t dbSNP:200191497
672 672 a, g dbSNP:3804505
673 673 c, t dbSNP:377349630
674 674 a, g dbSNP:769591944
677 677 g, t dbSNP:558446131
680 680 a, g dbSNP:758946444
686 686 a, g dbSNP:148615781
691 691 a, g dbSNP:766444850
701 701 a, g dbSNP:781665913
704 704 a, t dbSNP:773056527
709 709 a, g dbSNP:537516904
710 710 a, g dbSNP:770971528
714 714 a, g dbSNP:774408830
722 722 a, g dbSNP:759793242
725 725 g, t dbSNP:767704811
739 739 a, g dbSNP:562686600
740 740 a, g dbSNP:55643206
743 743 a, g dbSNP:752862724
747 747 c, t dbSNP:760975037
754 754 c, t dbSNP:141142186
755 755 a, g dbSNP:137852777
756 756 a, t dbSNP:73740379
757 757 a, t dbSNP:779780035
764 764 a, g dbSNP:201379297
768 768 a, t dbSNP:751086702
770 770 c, t dbSNP:138718922
773 773 c, t dbSNP:377165334
774 774 a, g dbSNP:77682973
779 779 c, t dbSNP:769481462
782 782 a, c dbSNP:777569080
785 785 c, g dbSNP:536254510
788 788 c, t dbSNP:139197513
789 789 -, t dbSNP:776734177
789 789 a, g dbSNP:79761183
793 793 -, gt dbSNP:760016067
796 796 -, tgtc dbSNP:765798459
801 801 c, g, t dbSNP:267601073
805 805 -, atcagactttg dbSNP:775980459
808 808 a, g dbSNP:772096798
809 809 g, t dbSNP:775690554
812 812 c, t dbSNP:137852776
819 819 a, t dbSNP:764426894
820 820 a, c dbSNP:375014511
821 821 c, t dbSNP:762271322
837 837 a, c dbSNP:765821468
850 850 a, g dbSNP:750912328
854 854 a, c dbSNP:764207331
855 855 g, t dbSNP:754171012
857 857 c, t dbSNP:571448222
858 858 a, g dbSNP:140476054
860 860 c, t dbSNP:746198506
864 864 a, g dbSNP:758741731
869 869 a, g dbSNP:780571007
882 882 a, c dbSNP:747450415
884 884 g, t dbSNP:137852778
885 885 a, g, t dbSNP:772699141
888 888 a, g dbSNP:144739917
889 889 c, t dbSNP:375851193
903 903 a, g dbSNP:137852780
906 906 a, g dbSNP:145754721
909 909 c, t dbSNP:767351638
910 910 c, t dbSNP:567484420
914 914 a, g dbSNP:775577623
916 916 c, t dbSNP:148936911
924 924 a, g dbSNP:536323609
933 933 c, t dbSNP:764335906
941 941 a, g dbSNP:753830122
942 942 c, t dbSNP:143655397
943 943 a, g dbSNP:765401978
944 944 g, t dbSNP:369926953
954 954 a, g dbSNP:758695181
957 957 a, g dbSNP:780339787
964 964 c, t dbSNP:752122624
965 965 a, g dbSNP:553105915
969 969 a, g dbSNP:151126903
972 972 a, g dbSNP:748728798
981 981 a, g, t dbSNP:17851771
1000 1000 a, g dbSNP:778432296
1007 1007 a, c, t dbSNP:201543041
1008 1008 a, g dbSNP:1570624
1010 1010 c, t dbSNP:137852781
1013 1013 c, t dbSNP:199814370
1014 1014 a, g dbSNP:115205076
1020 1020 a, c dbSNP:776580201
1023 1023 a, g, t dbSNP:138973203
1025 1025 c, g dbSNP:73740380
1028 1028 c, t dbSNP:763152151
1029 1029 a, t dbSNP:766799564
1034 1034 a, g dbSNP:751893199
1038 1038 a, g dbSNP:142107827
1039 1039 c, t dbSNP:373638109
1043 1043 a, g dbSNP:201263733
1056 1056 a, c dbSNP:776439005
1064 1064 c, g dbSNP:561675569
1073 1073 g, t dbSNP:144708524
1081 1081 a, g dbSNP:773341807
1086 1086 g, t dbSNP:763205369
1087 1087 a, g dbSNP:766568639
1088 1088 c, t dbSNP:751733899
1094 1094 c, t dbSNP:138430643
1101 1101 c, t dbSNP:767861983
1106 1106 a, g dbSNP:149256861
1115 1115 a, g dbSNP:756635361
1121 1121 a, g dbSNP:764694066
1130 1130 c, t dbSNP:749929571
1136 1136 a, g dbSNP:757932002
1143 1143 a, g dbSNP:779882152
1144 1144 a, g dbSNP:144447906
1156 1156 c, g, t dbSNP:377235781
1171 1171 c, t dbSNP:781028408
1181 1181 c, t dbSNP:201118016
1182 1182 a, g dbSNP:769745156
1184 1184 c, t dbSNP:527295360
1185 1185 a, c, g dbSNP:377732929
1186 1186 a, g dbSNP:200024100
1188 1188 a, g dbSNP:533695444
1191 1191 a, g dbSNP:767833659
1196 1196 a, g dbSNP:505760
1200 1200 a, c dbSNP:761135063
1217 1217 a, t dbSNP:143751828
1223 1223 c, t dbSNP:573582894
1231 1231 c, t dbSNP:754355317
1237 1237 c, t dbSNP:757987501
1241 1241 c, t dbSNP:371151471
1242 1242 a, g dbSNP:535905126
1250 1250 c, t dbSNP:549508905
1267 1267 a, g dbSNP:762398679
1271 1271 c, t dbSNP:566874147
1274 1274 c, t dbSNP:546262142
1278 1278 a, g dbSNP:777659552
1279 1279 c, t dbSNP:767223757
1281 1281 a, g dbSNP:752254610
1282 1282 c, t dbSNP:115913738
1283 1283 a, g dbSNP:777529248
1295 1295 a, c, g dbSNP:753835460
1304 1304 a, t dbSNP:769926323
1309 1309 -, t dbSNP:753549012
1312 1312 c, g dbSNP:779012527
1314 1314 a, g dbSNP:745982377
1320 1320 g, t dbSNP:772003514
1321 1321 c, t dbSNP:201946033
1328 1328 a, g dbSNP:747142996
1329 1329 c, t dbSNP:769124873
1337 1337 a, g dbSNP:777130566
1341 1341 -, a dbSNP:754483740
1341 1341 c, t dbSNP:762451714
1349 1349 g, t dbSNP:770406158
1350 1350 a, t dbSNP:773810917
1351 1351 c, t dbSNP:116134831
1352 1352 a, g dbSNP:766874585
1358 1358 a, g dbSNP:752449166
1369 1369 g, t dbSNP:760238186
1371 1371 a, g dbSNP:560939768
1378 1378 c, t dbSNP:753605289
1388 1388 c, t dbSNP:144389178
1389 1389 a, g dbSNP:778852957
1392 1392 a, t dbSNP:750259384
1401 1401 g, t dbSNP:529767823
1407 1407 a, g dbSNP:756563341
1412 1412 a, c dbSNP:777992546
1414 1414 -, a dbSNP:752642262
1414 1414 c, t dbSNP:749838602
1427 1427 a, g dbSNP:771316611
1432 1432 c, t dbSNP:774868841
1433 1433 c, t dbSNP:377286138
1434 1434 a, g dbSNP:768087811
1436 1436 a, t dbSNP:776277918
1437 1437 a, g dbSNP:761440315
1449 1449 c, g dbSNP:765146985
1450 1450 c, t dbSNP:772852573
1451 1451 c, t dbSNP:762998618
1454 1454 g, t dbSNP:766251523
1455 1455 c, t dbSNP:751476384
1460 1460 a, g dbSNP:770847993
1462 1462 c, t dbSNP:767652099
1464 1464 c, t dbSNP:753032457
1465 1465 c, g, t dbSNP:546464826
1468 1468 c, t dbSNP:749634021
1469 1469 a, g dbSNP:368766844
1470 1470 c, t dbSNP:1266787
1488 1488 c, g dbSNP:779291239
1496 1496 c, t dbSNP:373196171
1497 1497 a, g, t dbSNP:369468811
1500 1500 -, ttctggtat dbSNP:758401770
1506 1506 a, g dbSNP:747838806
1512 1512 c, t dbSNP:200116252
1516 1516 a, g dbSNP:772874099
1523 1523 g, t dbSNP:373042342
1525 1525 c, g dbSNP:770695749
1528 1528 c, t dbSNP:774448421
1533 1533 a, g dbSNP:759536227
1536 1536 c, g dbSNP:201129694
1537 1537 c, t dbSNP:752797704
1552 1552 a, g dbSNP:760785502
1563 1563 c, t dbSNP:764251038
1570 1570 c, g, t dbSNP:186911667
1578 1578 a, g dbSNP:201261630
1580 1580 c, t dbSNP:779322943
1581 1581 a, c, g dbSNP:534797617
1586 1586 c, t dbSNP:775601315
1590 1590 c, g dbSNP:376265750
1593 1593 a, g dbSNP:780730246
1595 1595 -, t dbSNP:777410245
1624 1624 c, t dbSNP:374205060
1637 1637 a, g dbSNP:751999462
1650 1650 c, g, t dbSNP:200328198
1651 1651 a, g dbSNP:559323992
1654 1654 a, c, t dbSNP:368238981
1655 1655 a, g dbSNP:745686999
1659 1659 a, g dbSNP:771922968
1663 1663 g, t dbSNP:775581363
1670 1670 c, t dbSNP:746949898
1673 1673 a, c dbSNP:768684304
1674 1674 a, c, t dbSNP:372520849
1680 1680 a, g dbSNP:761991438
1683 1683 a, g dbSNP:527539103
1684 1684 c, t dbSNP:773385237
1685 1685 a, g dbSNP:763313820
1689 1689 c, g dbSNP:766675010
1692 1692 a, g dbSNP:752066434
1709 1709 c, g dbSNP:547277110
1711 1711 c, t dbSNP:774640110
1712 1712 a, g dbSNP:139302751
1713 1713 c, t dbSNP:759944784
1714 1714 a, c, g dbSNP:377227885
1720 1720 -, cagaac dbSNP:757005175
1721 1721 c, t dbSNP:745458555
1729 1729 c, t dbSNP:570700601
1733 1733 c, g, t dbSNP:779990464
1738 1738 a, g dbSNP:533130519
1739 1739 c, t dbSNP:149998588
1740 1740 a, g dbSNP:549746209
1746 1746 c, g dbSNP:769799699
1747 1747 a, g dbSNP:773438652
1749 1749 c, g dbSNP:763151746
1752 1752 c, t dbSNP:766799700
1760 1760 a, g dbSNP:146351342
1766 1766 a, g dbSNP:759767484
1770 1770 a, c dbSNP:771160817
1782 1782 -, g dbSNP:769824283
1792 1792 a, c, t dbSNP:369201702
1793 1793 a, g, t dbSNP:772265107
1794 1794 c, t dbSNP:543750772
1802 1802 c, t dbSNP:145194882
1821 1821 c, g dbSNP:749931268
1823 1823 a, g dbSNP:557334703
1832 1832 c, t dbSNP:766088541
1835 1835 c, t dbSNP:9463791
1858 1858 c, t dbSNP:200287561
1859 1859 a, g dbSNP:754817622
1865 1865 c, t dbSNP:376063510
1866 1866 a, g dbSNP:752701116
1883 1883 a, t dbSNP:756018758
1892 1892 a, g dbSNP:201197637
1895 1895 c, g dbSNP:749376467
1905 1905 a, g dbSNP:770846427
1907 1907 a, g dbSNP:779206438
1933 1933 a, c dbSNP:746061688
1935 1935 g, t dbSNP:772553100
1939 1939 a, c dbSNP:369503191
1941 1941 c, t dbSNP:373267174
1947 1947 a, g dbSNP:115475262
1948 1948 c, t dbSNP:777238548
1949 1949 a, g dbSNP:762558098
1962 1962 a, c dbSNP:765750690
1963 1963 c, t dbSNP:137869409
1964 1964 g, t dbSNP:571301239
1966 1966 c, g dbSNP:766028677
1974 1974 a, c dbSNP:759109332
1975 1975 a, g dbSNP:767389087
1982 1982 a, c dbSNP:17851770
1983 1983 g, t dbSNP:142458862
1988 1988 a, g dbSNP:752237398
1992 1992 a, g dbSNP:765406474
1996 1996 c, t dbSNP:750490112
2006 2006 a, g dbSNP:758464930
2013 2013 c, t dbSNP:199604518
2015 2015 a, c, g dbSNP:747171841
2019 2019 a, g dbSNP:574948354
2020 2020 c, t dbSNP:35648306
2022 2022 a, g dbSNP:770182350
2033 2033 c, t dbSNP:773723965
2034 2034 a, g dbSNP:745406233
2075 2075 a, t dbSNP:771508456
2088 2088 a, g dbSNP:370296690
2089 2089 -, c dbSNP:35057388
2094 2094 a, g dbSNP:374687363
2095 2095 c, t dbSNP:763914059
2098 2098 g, t dbSNP:776386841
2099 2099 c, t dbSNP:761619022
2108 2108 a, c dbSNP:1062856
2109 2109 c, g dbSNP:556512411
2116 2116 c, g dbSNP:574373324
2120 2120 c, t dbSNP:750308089
2122 2122 a, g dbSNP:762956304
2123 2123 -, t dbSNP:769076661
2129 2129 a, c dbSNP:766555611
2139 2139 g, t dbSNP:751898450
2149 2149 a, t dbSNP:151292895
2151 2151 c, t dbSNP:781725242
2153 2153 a, c dbSNP:753029129
2154 2154 c, t dbSNP:756465504
2155 2155 a, t dbSNP:778152272
2159 2159 c, g dbSNP:749785271
2161 2161 c, t dbSNP:771634849
2166 2166 -, ttc dbSNP:749733456
2171 2171 a, c dbSNP:7757370
2175 2175 a, c dbSNP:746723460
2179 2179 a, c dbSNP:768312457
2182 2182 a, g dbSNP:776281497
2190 2190 a, c, t dbSNP:78906153
2191 2191 a, g dbSNP:563080977
2197 2197 -, a dbSNP:769261756
2214 2214 a, t dbSNP:762950776
2222 2222 c, t dbSNP:531979255
2223 2223 c, t dbSNP:751673863
2225 2225 g, t dbSNP:745680446
2232 2232 a, g dbSNP:542339943
2244 2244 -, a dbSNP:774572756
2253 2253 c, g dbSNP:767853115
2276 2276 a, g dbSNP:562067977
2283 2283 a, t dbSNP:538486876
2323 2323 a, t dbSNP:547492259
2341 2341 a, g dbSNP:3177234
2381 2381 c, t dbSNP:140558732
2399 2399 a, c, g dbSNP:532308779
2406 2406 c, t dbSNP:558716728
2427 2427 c, g dbSNP:754373006
2429 2429 c, t dbSNP:757749888
2431 2431 c, t dbSNP:775881763
2442 2442 a, c, g dbSNP:9463792
2444 2444 c, t dbSNP:776770714
2461 2461 c, t dbSNP:568704769
2518 2518 a, g dbSNP:114570177
2527 2527 g, t dbSNP:115035804
2556 2556 g, t dbSNP:747813757
2557 2557 a, c dbSNP:769515946
2577 2577 c, t dbSNP:540732861
2596 2596 c, g dbSNP:763334616
2603 2603 c, g dbSNP:533752238
2609 2609 a, g dbSNP:763040025
2618 2618 a, g dbSNP:181316173
2644 2644 c, t dbSNP:577423827
2671 2671 a, g dbSNP:530943559
2688 2688 a, g dbSNP:771002960
2731 2731 a, g dbSNP:560182875
2737 2737 c, t dbSNP:550534338
2742 2742 a, g dbSNP:112518124
2767 2767 -, a dbSNP:762174180
2801 2801 c, t dbSNP:759716034
2803 2803 c, t dbSNP:767616317
2866 2866 a, g dbSNP:576688277
2882 2882 a, g dbSNP:775618057
2908 2908 c, t dbSNP:760949820
2921 2921 c, g dbSNP:78956562
2931 2931 a, t dbSNP:6926242
2946 2946 c, t dbSNP:112311115
2952 2952 c, g dbSNP:147096778
2959 2959 c, t dbSNP:564333040
2992 2992 a, g dbSNP:765765632
3007 3007 c, t dbSNP:761411516
3013 3013 a, g dbSNP:533195076
3050 3050 g, t dbSNP:552053511
3061 3061 c, t dbSNP:754531778
3069 3069 a, c dbSNP:137988837
3072 3072 -, tacatata dbSNP:201289370
3072 3072 -, ac dbSNP:772581532
3073 3073 a, c dbSNP:531389664
3074 3074 -, at, atat, atatat, atatatatatatatatat dbSNP:150550566
3074 3074 c, t dbSNP:372975445
3075 3075 -, at dbSNP:770996321
3075 3075 a, c dbSNP:547999372
3076 3076 -, atat dbSNP:746115948
3076 3076 c, t dbSNP:749096403
3077 3077 a, c dbSNP:190868766
3078 3078 c, t dbSNP:774448574
3079 3079 a, c dbSNP:182187034
3090 3090 -, tatatt dbSNP:148993950
3092 3092 -, ata dbSNP:764160781
3093 3093 -, tt dbSNP:780992102
3094 3094 -, ttt dbSNP:756993595
3094 3094 -, t dbSNP:751462357
3095 3095 a, t dbSNP:112794529
3096 3096 -, t dbSNP:67536928
3096 3096 a, t dbSNP:772113871
3102 3102 a, g dbSNP:775629535
3105 3105 a, c, t dbSNP:533420134
3107 3107 c, t dbSNP:764383393
3108 3108 a, g dbSNP:568098715
3198 3198 -, a dbSNP:769631457
3204 3204 c, t dbSNP:762187402
3220 3220 a, g, t dbSNP:533657379
3223 3223 c, t dbSNP:750968125
3230 3230 a, g dbSNP:4455668
3253 3253 c, t dbSNP:145755257
3254 3254 a, g dbSNP:752262967
3261 3261 c, t dbSNP:755509055
3314 3314 c, g dbSNP:539467431
3317 3317 c, t dbSNP:764727367
3330 3330 c, t dbSNP:551728105
3354 3354 c, g dbSNP:556879521
3364 3364 -, a, aa dbSNP:539728759
3365 3365 -, a dbSNP:35994917
3365 3365 -, a dbSNP:774860962
3367 3367 a, g dbSNP:748896877
3386 3386 a, g dbSNP:74543871
3429 3429 a, c dbSNP:778850441
3433 3433 c, t dbSNP:745860987
3493 3493 a, g dbSNP:772063109
3523 3523 a, t dbSNP:775226789
3531 3531 -, c, tc dbSNP:35524067
3540 3540 a, c dbSNP:2397092
3543 3543 c, g dbSNP:556024478
3562 3562 a, g dbSNP:138385203
3574 3574 a, g dbSNP:572463469
3575 3575 g, t dbSNP:776888186
3593 3593 a, g dbSNP:761992364
3626 3626 a, c dbSNP:547537212
3628 3628 -, c dbSNP:34588405
3637 3637 c, g dbSNP:1057469
3651 3651 c, t dbSNP:773551004
3694 3694 c, t dbSNP:541156757
3706 3706 -, t dbSNP:775986568
3725 3725 g, t dbSNP:763167447
3742 3742 -, c dbSNP:34552793
3768 3768 c, t dbSNP:766911106
3769 3769 a, g dbSNP:751968152
3772 3772 c, t dbSNP:564653215
3798 3798 -, ac, ca dbSNP:77236493
3798 3798 a, t dbSNP:112165693
3799 3799 -, ac, ca dbSNP:58779695
3827 3827 c, t dbSNP:577595129
3850 3850 a, c dbSNP:763671199
3851 3851 c, t dbSNP:753616585
3852 3852 a, g dbSNP:116513025
3857 3857 -, a dbSNP:201262358
3873 3873 c, t dbSNP:144629373
3887 3887 -, a dbSNP:767277798
3925 3925 a, g dbSNP:750250332
3926 3926 g, t dbSNP:148070071
3954 3954 c, g dbSNP:780064333
3961 3961 a, g dbSNP:746899390
3986 3986 c, t dbSNP:548322834
4000 4000 a, c dbSNP:776657227
4050 4050 c, g dbSNP:761953964
4059 4059 c, t dbSNP:188024400
4075 4075 a, g dbSNP:781243889
4109 4109 g, t dbSNP:769719142
4136 4136 -, g dbSNP:750276165
4151 4151 a, t dbSNP:770015476
4159 4159 a, t dbSNP:773791292
4169 4169 a, g dbSNP:190998325
4173 4173 a, g dbSNP:547153886
4175 4175 c, t dbSNP:766768719
4176 4176 a, g dbSNP:774692417
4180 4180 a, g dbSNP:763404213
4184 4184 a, g dbSNP:570595236
4186 4186 a, c dbSNP:774966926
4191 4191 a, g dbSNP:528600480
4214 4214 a, g dbSNP:59722297
4226 4226 -, gtc dbSNP:536874738
4250 4250 c, g dbSNP:183196029
4256 4256 c, t dbSNP:761343884
4258 4258 g, t dbSNP:765014599
4261 4261 c, t dbSNP:753392817
4262 4262 a, g dbSNP:570318634
4269 4269 c, t dbSNP:764635156
4272 4272 c, t dbSNP:749996425
4286 4286 a, g dbSNP:750430124
4321 4321 c, t dbSNP:536166304
4332 4332 a, g dbSNP:754144601
4366 4366 c, t dbSNP:142539862
4376 4376 a, t dbSNP:556066954
4393 4393 c, g dbSNP:77875583
4397 4397 a, c dbSNP:754895844
4404 4404 c, t dbSNP:558533202
4408 4408 c, g dbSNP:781047367
4412 4412 c, t dbSNP:748229731
4431 4431 g, t dbSNP:535252455
4437 4437 a, g dbSNP:146014466
4461 4461 c, t dbSNP:577733486
4469 4469 a, g dbSNP:9474228
4480 4480 c, t dbSNP:749445189
4486 4486 a, g dbSNP:771364024
4488 4488 -, aagt dbSNP:756323396
4521 4521 c, t dbSNP:774568918
4525 4525 a, g dbSNP:781503993
4544 4544 a, g dbSNP:139612360
4561 4561 -, c dbSNP:751175498
4563 4563 a, t dbSNP:748266816
4571 4571 a, g dbSNP:745925173
4603 4603 a, g dbSNP:144304746
4611 4611 a, c dbSNP:541752497
4615 4615 g, t dbSNP:562040290
4625 4625 c, t dbSNP:527479609
4627 4627 c, t dbSNP:139703274
4631 4631 a, g dbSNP:551456602
4634 4634 a, t dbSNP:564140075
4640 4640 a, g dbSNP:533064842
4665 4665 g, t dbSNP:549757770
4726 4726 a, c dbSNP:534481534
4729 4729 c, t dbSNP:188379710
4762 4762 c, t dbSNP:762508435
4763 4763 a, g dbSNP:766254775
4765 4765 a, g dbSNP:535480481
4771 4771 c, g dbSNP:773134373
4772 4772 g, t dbSNP:751323316
4786 4786 -, c dbSNP:779831832
4789 4789 c, t dbSNP:754699689
4790 4790 a, g dbSNP:767470170
4791 4791 c, g dbSNP:749858586
4797 4797 a, c dbSNP:752580200
4798 4798 c, t dbSNP:756231505
4799 4799 a, g dbSNP:777681062
4854 4854 a, c dbSNP:771412518
4856 4856 -, c dbSNP:780253698
4876 4876 c, t dbSNP:749586033
4877 4877 a, g dbSNP:115236787
4922 4922 c, g dbSNP:566399974
4945 4945 a, g dbSNP:759925870
4962 4962 a, g dbSNP:779127729
4968 4968 c, t dbSNP:377752067
4987 4987 a, g dbSNP:767726725
5016 5016 c, t dbSNP:746268736
5022 5022 c, g dbSNP:9367485
5034 5034 a, c dbSNP:149842249
5063 5063 c, t dbSNP:145857244
5088 5088 a, g dbSNP:764870648
5116 5116 g, t dbSNP:749943478
5120 5120 c, t dbSNP:537136974
5163 5163 a, t dbSNP:557076902
5169 5169 c, t dbSNP:193024363
5177 5177 a, g dbSNP:766421760
5182 5182 a, g dbSNP:772582898
5190 5190 c, t dbSNP:573673620
5194 5194 a, t dbSNP:3789772
5219 5219 c, t dbSNP:530879426
5242 5242 a, g dbSNP:3789771
5274 5274 c, t dbSNP:780827217
5288 5288 c, t dbSNP:540821249
5290 5290 c, t dbSNP:774013389
5292 5292 g, t dbSNP:199792377
5294 5294 c, t dbSNP:748441886
5296 5296 c, t dbSNP:74377102
5314 5314 c, t dbSNP:184831590
5316 5316 a, g dbSNP:767275665
5321 5321 c, t dbSNP:543539925
5329 5329 -, a dbSNP:374561436
5331 5331 c, t dbSNP:756037371
5364 5364 c, g dbSNP:188142353
5382 5382 c, t dbSNP:777886701
5402 5402 a, g dbSNP:749376705
5452 5452 a, g dbSNP:764038855
5456 5456 c, t dbSNP:6919266
5462 5462 a, g dbSNP:774861961

Target ORF information:

RefSeq Version NM_001172420
Organism Homo sapiens (human)
Definition Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant C, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001172420

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
1501
1561
1621
1681
1741
1801
1861
ATGTTGAAAA CAGCCTTCCA CAGAAGTCAG ACGCTGAGCT ACAGGAACGG CTATGCAATT 
GTTCGACGTC CAACAGTTGG GATAGGCGGA GACCGGCTCC AGTTCAACCA GCTGTCCCAG
GCTGAGCTGG ATGAGTTGGC CAGTAAGGCA CCAGTCTTAA CTTATGGCCA ACCTAAACAA
GCCCCACCTG CGGATTTTAT TCCTGCGCAT GTGGCCTTTG ACAAAAAGGT ACTGAAATTT
GATGCCTATT TCCAAGAAGA TGTTCCTATG TCAACTGAGG AACAGTATAG GATCCGTCAG
GTGAACATTT ACTATTATCT AGAAGATGAC AGCATGTCTG TCATAGAGCC TGTTGTAGAA
AATTCTGGAA TCCTTCAAGG CAAGTTAATA AAACGCCAGC GGCTAGCCAA GAATGACCGG
GGTGACCATT ACCATTGGAA AGACCTAAAT CGAGGAATAA ACATCACAAT TTATGGCAAA
ACTTTCCGCG TTGTTGACTG TGACCAATTC ACACAGGTAT TTTTAGAAAG CCAAGGAATT
GAGTTAAATC CACCAGAGAA GATGGCTCTT GATCCTTACA CTGAACTCCG AAAACAGCCT
CTTCGTAAGT ATGTCACCCC ATCAGACTTT GATCAACTCA AGCAATTTCT CACCTTTGAC
AAACAGGTCC TTCGATTCTA TGCAATCTGG GATGATACAG ACAGCATGTA TGGTGAATGT
CGGACCTACA TCATTCATTA CTATCTTATG GATGATACGG TGGAAATTCG AGAGGTCCAC
GAACGGAATG ATGGGAGAGA TCCTTTCCCA CTCCTAATGA ACCGCCAGCG TGTGCCCAAA
GTTTTGGTGG AAAATGCAAA GAACTTCCCT CAGTGTGTGC TAGAAATCTC TGACCAAGAA
GTGTTGGAAT GGTATACTGC TAAAGACTTC ATTGTTGGGA AGTCACTCAC TATCCTTGGG
AGAACTTTCT TCATTTATGA TTGTGATCCA TTTACTCGAC GGTATTACAA AGAGAAGTTT
GGAATCACTG ATTTACCACG TATTGATGTG AGCAAGCGGG AACCACCTCC AGTAAAACAG
GAGTTGCCTC CTTATAACGG TTTTGGACTA GTGGAAGATT CTGCTCAGAA TTGTTTTGCT
CTCATTCCAA AAGCTCCAAA AAAAGACGTT ATTAAAATGC TGGTGAATGA TAACAAGGTG
CTTCGTTATT TGGCTGTACT GGAATCCCCC ATCCCAGAAG ACAAAGACCG CAGATTTGTC
TTCTCTTACT TTCTAGCTAC CGACATGATC AGTATCTTTG AGCCTCCTGT TCGCAATTCT
GGTATCATTG GGGGCAAGTA CCTTGGCAGG ACTAAAGTTG TTAAACCATA CTCTACAGTG
GACAACCCTG TCTACTATGG CCCCAGTGAC TTCTTCATTG GTGCTGTGAT TGAAGTGTTT
GGTCACCGGT TCATCATCCT TGATACAGAC GAGTATGTTT TGAAATACAT GGAGAGCAAC
GCTGCCCAGT ATTCACCAGA AGCACTCGCG TCAATTCAGA ACCATGTCCG AAAGCGAGAA
GCGCCTGCTC CAGAAGCAGA AAGCAAGCAA ACTGAAAAGG ATCCAGGCGT GCAGGAATTG
GAAGCATTAA TAGACACAAT TCAGAAGCAA CTGAAAGATC ACTCATGCAA AGACAACATT
CGTGAGGCAT TTCAAATTTA TGACAAGGAA GCTTCAGGAT ATGTGGACAG AGACATGTTC
TTTAAAATCT GTGAATCGCT TAACGTCCCA GTGGATGACT CCTTGGTTAA GGAGTTAATC
AGGATGTGCT CTCATGGAGA AGGCAAAATT AACTACTATA ACTTTGTTCG TGCTTTCTCA
AACTGA

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

CloneID OHu19655
Accession Version NM_018100.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1923bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector Document: User manual_GenEZ ORF Clone Products.pdf (pdf)
Clone information Clone Map
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags Document: MSDS_GenEZ ORF Clone Products.pdf (pdf)
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product EF-hand domain-containing protein 1 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA906669.1, AK001328.1, BC020210.1, AL049611.24 and BQ270560.1. This sequence is a reference standard in the RefSeqGene project. On Aug 30, 2007 this sequence version replaced gi:145386538. Summary: This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. Transcript Variant: This variant (A) encodes the longer isoform (1). 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 :: BC012921.1, EU520261.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [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
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGGTGTCCA ATCCCGTGCA TGGCTTGCCC TTTCTTCCGG GCACGTCCTT TAAGGACTCT 
ACGAAAACAG CCTTCCACAG AAGTCAGACG CTGAGCTACA GGAACGGCTA TGCAATTGTT
CGACGTCCAA CAGTTGGGAT AGGCGGAGAC CGGCTCCAGT TCAACCAGCT GTCCCAGGCT
GAGCTGGATG AGTTGGCCAG TAAGGCACCA GTCTTAACTT ATGGCCAACC TAAACAAGCC
CCACCTGCGG ATTTTATTCC TGCGCATGTG GCCTTTGACA AAAAGGTACT GAAATTTGAT
GCCTATTTCC AAGAAGATGT TCCTATGTCA ACTGAGGAAC AGTATAGGAT CCGTCAGGTG
AACATTTACT ATTATCTAGA AGATGACAGC ATGTCTGTCA TAGAGCCTGT TGTAGAAAAT
TCTGGAATCC TTCAAGGCAA GTTAATAAAA CGCCAGCGGC TAGCCAAGAA TGACCGGGGT
GACCATTACC ATTGGAAAGA CCTAAATCGA GGAATAAACA TCACAATTTA TGGCAAAACT
TTCCGCGTTG TTGACTGTGA CCAATTCACA CAGGTATTTT TAGAAAGCCA AGGAATTGAG
TTAAATCCAC CAGAGAAGAT GGCTCTTGAT CCTTACACTG AACTCCGAAA ACAGCCTCTT
CGTAAGTATG TCACCCCATC AGACTTTGAT CAACTCAAGC AATTTCTCAC CTTTGACAAA
CAGGTCCTTC GATTCTATGC AATCTGGGAT GATACAGACA GCATGTATGG TGAATGTCGG
ACCTACATCA TTCATTACTA TCTTATGGAT GATACGGTGG AAATTCGAGA GGTCCACGAA
CGGAATGATG GGAGAGATCC TTTCCCACTC CTAATGAACC GCCAGCGTGT GCCCAAAGTT
TTGGTGGAAA ATGCAAAGAA CTTCCCTCAG TGTGTGCTAG AAATCTCTGA CCAAGAAGTG
TTGGAATGGT ATACTGCTAA AGACTTCATT GTTGGGAAGT CACTCACTAT CCTTGGGAGA
ACTTTCTTCA TTTATGATTG TGATCCATTT ACTCGACGGT ATTACAAAGA GAAGTTTGGA
ATCACTGATT TACCACGTAT TGATGTGAGC AAGCGGGAAC CACCTCCAGT AAAACAGGAG
TTGCCTCCTT ATAACGGTTT TGGACTAGTG GAAGATTCTG CTCAGAATTG TTTTGCTCTC
ATTCCAAAAG CTCCAAAAAA AGACGTTATT AAAATGCTGG TGAATGATAA CAAGGTGCTT
CGTTATTTGG CTGTACTGGA ATCCCCCATC CCAGAAGACA AAGACCGCAG ATTTGTCTTC
TCTTACTTTC TAGCTACCGA CATGATCAGT ATCTTTGAGC CTCCTGTTCG CAATTCTGGT
ATCATTGGGG GCAAGTACCT TGGCAGGACT AAAGTTGTTA AACCATACTC TACAGTGGAC
AACCCTGTCT ACTATGGCCC CAGTGACTTC TTCATTGGTG CTGTGATTGA AGTGTTTGGT
CACCGGTTCA TCATCCTTGA TACAGACGAG TATGTTTTGA AATACATGGA GAGCAACGCT
GCCCAGTATT CACCAGAAGC ACTCGCGTCA ATTCAGAACC ATGTCCGAAA GCGAGAAGCG
CCTGCTCCAG AAGCAGAAAG CAAGCAAACT GAAAAGGATC CAGGCGTGCA GGAATTGGAA
GCATTAATAG ACACAATTCA GAAGCAACTG AAAGATCACT CATGCAAAGA CAACATTCGT
GAGGCATTTC AAATTTATGA CAAGGAAGCT TCAGGATATG TGGACAGAGA CATGTTCTTT
AAAATCTGTG AATCGCTTAA CGTCCCAGTG GATGACTCCT TGGTTAAGGA GTTAATCAGG
ATGTGCTCTC ATGGAGAAGG CAAAATTAAC TACTATAACT TTGTTCGTGC TTTCTCAAAC
TGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_060570.2
CDS216..2138
Misc Feature(1)189..191(+)
Misc Feature(2)492..809(+)
Misc Feature(3)930..1292(+)
Misc Feature(4)1461..1775(+)
Misc Feature(5)1950..2132(+)
Misc Feature(6)1965..2129(+)
Misc Feature(7)1974..2114(+)
Exon (1)1..278
Gene:EFHC1
Gene Synonym:
Exon (2)279..500
Gene:EFHC1
Gene Synonym:
Exon (3)501..788
Gene:EFHC1
Gene Synonym:
Exon (4)789..938
Gene:EFHC1
Gene Synonym:
Exon (5)939..1131
Gene:EFHC1
Gene Synonym:
Exon (6)1132..1352
Gene:EFHC1
Gene Synonym:
Exon (7)1353..1493
Gene:EFHC1
Gene Synonym:
Exon (8)1494..1707
Gene:EFHC1
Gene Synonym:
Exon (9)1708..1855
Gene:EFHC1
Gene Synonym:
Exon (10)1856..2066
Gene:EFHC1
Gene Synonym:
Exon (11)2067..5582
Gene:EFHC1
Gene Synonym:
Translation
Position Chain Variation Link
1 1 a, g dbSNP:539401952
21 21 a, g dbSNP:2296196
29 29 g, t dbSNP:759527022
35 35 a, g dbSNP:770333179
38 38 g, t dbSNP:778272706
51 51 a, t dbSNP:113053862
53 53 a, c dbSNP:771613422
54 54 c, t dbSNP:41273738
58 58 g, t dbSNP:746729061
60 60 c, t dbSNP:768193569
62 62 a, t dbSNP:776611414
65 65 a, c, g dbSNP:761681450
68 68 -, gc dbSNP:58685840
70 70 c, g dbSNP:561266029
71 71 c, t dbSNP:773316182
73 73 c, t dbSNP:762732974
76 76 c, t dbSNP:766493976
77 77 a, g dbSNP:761845886
82 82 c, t dbSNP:755266463
83 83 a, g dbSNP:767702953
92 92 c, t dbSNP:752864756
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1840 1840 c, t dbSNP:766799700
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1854 1854 a, g dbSNP:759767484
1858 1858 a, c dbSNP:771160817
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1890 1890 c, t dbSNP:145194882
1909 1909 c, g dbSNP:749931268
1911 1911 a, g dbSNP:557334703
1920 1920 c, t dbSNP:766088541
1923 1923 c, t dbSNP:9463791
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1947 1947 a, g dbSNP:754817622
1953 1953 c, t dbSNP:376063510
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1971 1971 a, t dbSNP:756018758
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1983 1983 c, g dbSNP:749376467
1993 1993 a, g dbSNP:770846427
1995 1995 a, g dbSNP:779206438
2021 2021 a, c dbSNP:746061688
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2027 2027 a, c dbSNP:369503191
2029 2029 c, t dbSNP:373267174
2035 2035 a, g dbSNP:115475262
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2037 2037 a, g dbSNP:762558098
2050 2050 a, c dbSNP:765750690
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2054 2054 c, g dbSNP:766028677
2062 2062 a, c dbSNP:759109332
2063 2063 a, g dbSNP:767389087
2070 2070 a, c dbSNP:17851770
2071 2071 g, t dbSNP:142458862
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2103 2103 a, c, g dbSNP:747171841
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2108 2108 c, t dbSNP:35648306
2110 2110 a, g dbSNP:770182350
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2163 2163 a, t dbSNP:771508456
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2204 2204 c, g dbSNP:574373324
2208 2208 c, t dbSNP:750308089
2210 2210 a, g dbSNP:762956304
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2227 2227 g, t dbSNP:751898450
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2532 2532 c, t dbSNP:776770714
2549 2549 c, t dbSNP:568704769
2606 2606 a, g dbSNP:114570177
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2644 2644 g, t dbSNP:747813757
2645 2645 a, c dbSNP:769515946
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2691 2691 c, g dbSNP:533752238
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2706 2706 a, g dbSNP:181316173
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2759 2759 a, g dbSNP:530943559
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2830 2830 a, g dbSNP:112518124
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2970 2970 a, g dbSNP:775618057
2996 2996 c, t dbSNP:760949820
3009 3009 c, g dbSNP:78956562
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3040 3040 c, g dbSNP:147096778
3047 3047 c, t dbSNP:564333040
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3138 3138 g, t dbSNP:552053511
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3157 3157 a, c dbSNP:137988837
3160 3160 -, tacatata dbSNP:201289370
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3161 3161 a, c dbSNP:531389664
3162 3162 -, at, atat, atatat, atatatatatatatatat dbSNP:150550566
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3164 3164 -, atat dbSNP:746115948
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3165 3165 a, c dbSNP:190868766
3166 3166 c, t dbSNP:774448574
3167 3167 a, c dbSNP:182187034
3178 3178 -, tatatt dbSNP:148993950
3180 3180 -, ata dbSNP:764160781
3181 3181 -, tt dbSNP:780992102
3182 3182 -, ttt dbSNP:756993595
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3193 3193 a, c, t dbSNP:533420134
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3196 3196 a, g dbSNP:568098715
3286 3286 -, a dbSNP:769631457
3292 3292 c, t dbSNP:762187402
3308 3308 a, g, t dbSNP:533657379
3311 3311 c, t dbSNP:750968125
3318 3318 a, g dbSNP:4455668
3341 3341 c, t dbSNP:145755257
3342 3342 a, g dbSNP:752262967
3349 3349 c, t dbSNP:755509055
3402 3402 c, g dbSNP:539467431
3405 3405 c, t dbSNP:764727367
3418 3418 c, t dbSNP:551728105
3442 3442 c, g dbSNP:556879521
3452 3452 -, a, aa dbSNP:539728759
3453 3453 -, a dbSNP:35994917
3453 3453 -, a dbSNP:774860962
3455 3455 a, g dbSNP:748896877
3474 3474 a, g dbSNP:74543871
3517 3517 a, c dbSNP:778850441
3521 3521 c, t dbSNP:745860987
3581 3581 a, g dbSNP:772063109
3611 3611 a, t dbSNP:775226789
3619 3619 -, c, tc dbSNP:35524067
3628 3628 a, c dbSNP:2397092
3631 3631 c, g dbSNP:556024478
3650 3650 a, g dbSNP:138385203
3662 3662 a, g dbSNP:572463469
3663 3663 g, t dbSNP:776888186
3681 3681 a, g dbSNP:761992364
3714 3714 a, c dbSNP:547537212
3716 3716 -, c dbSNP:34588405
3725 3725 c, g dbSNP:1057469
3739 3739 c, t dbSNP:773551004
3782 3782 c, t dbSNP:541156757
3794 3794 -, t dbSNP:775986568
3813 3813 g, t dbSNP:763167447
3830 3830 -, c dbSNP:34552793
3856 3856 c, t dbSNP:766911106
3857 3857 a, g dbSNP:751968152
3860 3860 c, t dbSNP:564653215
3886 3886 -, ac, ca dbSNP:77236493
3886 3886 a, t dbSNP:112165693
3887 3887 -, ac, ca dbSNP:58779695
3915 3915 c, t dbSNP:577595129
3938 3938 a, c dbSNP:763671199
3939 3939 c, t dbSNP:753616585
3940 3940 a, g dbSNP:116513025
3945 3945 -, a dbSNP:201262358
3961 3961 c, t dbSNP:144629373
3975 3975 -, a dbSNP:767277798
4013 4013 a, g dbSNP:750250332
4014 4014 g, t dbSNP:148070071
4042 4042 c, g dbSNP:780064333
4049 4049 a, g dbSNP:746899390
4074 4074 c, t dbSNP:548322834
4088 4088 a, c dbSNP:776657227
4138 4138 c, g dbSNP:761953964
4147 4147 c, t dbSNP:188024400
4163 4163 a, g dbSNP:781243889
4197 4197 g, t dbSNP:769719142
4224 4224 -, g dbSNP:750276165
4239 4239 a, t dbSNP:770015476
4247 4247 a, t dbSNP:773791292
4257 4257 a, g dbSNP:190998325
4261 4261 a, g dbSNP:547153886
4263 4263 c, t dbSNP:766768719
4264 4264 a, g dbSNP:774692417
4268 4268 a, g dbSNP:763404213
4272 4272 a, g dbSNP:570595236
4274 4274 a, c dbSNP:774966926
4279 4279 a, g dbSNP:528600480
4302 4302 a, g dbSNP:59722297
4314 4314 -, gtc dbSNP:536874738
4338 4338 c, g dbSNP:183196029
4344 4344 c, t dbSNP:761343884
4346 4346 g, t dbSNP:765014599
4349 4349 c, t dbSNP:753392817
4350 4350 a, g dbSNP:570318634
4357 4357 c, t dbSNP:764635156
4360 4360 c, t dbSNP:749996425
4374 4374 a, g dbSNP:750430124
4409 4409 c, t dbSNP:536166304
4420 4420 a, g dbSNP:754144601
4454 4454 c, t dbSNP:142539862
4464 4464 a, t dbSNP:556066954
4481 4481 c, g dbSNP:77875583
4485 4485 a, c dbSNP:754895844
4492 4492 c, t dbSNP:558533202
4496 4496 c, g dbSNP:781047367
4500 4500 c, t dbSNP:748229731
4519 4519 g, t dbSNP:535252455
4525 4525 a, g dbSNP:146014466
4549 4549 c, t dbSNP:577733486
4557 4557 a, g dbSNP:9474228
4568 4568 c, t dbSNP:749445189
4574 4574 a, g dbSNP:771364024
4576 4576 -, aagt dbSNP:756323396
4609 4609 c, t dbSNP:774568918
4613 4613 a, g dbSNP:781503993
4632 4632 a, g dbSNP:139612360
4649 4649 -, c dbSNP:751175498
4651 4651 a, t dbSNP:748266816
4659 4659 a, g dbSNP:745925173
4691 4691 a, g dbSNP:144304746
4699 4699 a, c dbSNP:541752497
4703 4703 g, t dbSNP:562040290
4713 4713 c, t dbSNP:527479609
4715 4715 c, t dbSNP:139703274
4719 4719 a, g dbSNP:551456602
4722 4722 a, t dbSNP:564140075
4728 4728 a, g dbSNP:533064842
4753 4753 g, t dbSNP:549757770
4814 4814 a, c dbSNP:534481534
4817 4817 c, t dbSNP:188379710
4850 4850 c, t dbSNP:762508435
4851 4851 a, g dbSNP:766254775
4853 4853 a, g dbSNP:535480481
4859 4859 c, g dbSNP:773134373
4860 4860 g, t dbSNP:751323316
4874 4874 -, c dbSNP:779831832
4877 4877 c, t dbSNP:754699689
4878 4878 a, g dbSNP:767470170
4879 4879 c, g dbSNP:749858586
4885 4885 a, c dbSNP:752580200
4886 4886 c, t dbSNP:756231505
4887 4887 a, g dbSNP:777681062
4942 4942 a, c dbSNP:771412518
4944 4944 -, c dbSNP:780253698
4964 4964 c, t dbSNP:749586033
4965 4965 a, g dbSNP:115236787
5010 5010 c, g dbSNP:566399974
5033 5033 a, g dbSNP:759925870
5050 5050 a, g dbSNP:779127729
5056 5056 c, t dbSNP:377752067
5075 5075 a, g dbSNP:767726725
5104 5104 c, t dbSNP:746268736
5110 5110 c, g dbSNP:9367485
5122 5122 a, c dbSNP:149842249
5151 5151 c, t dbSNP:145857244
5176 5176 a, g dbSNP:764870648
5204 5204 g, t dbSNP:749943478
5208 5208 c, t dbSNP:537136974
5251 5251 a, t dbSNP:557076902
5257 5257 c, t dbSNP:193024363
5265 5265 a, g dbSNP:766421760
5270 5270 a, g dbSNP:772582898
5278 5278 c, t dbSNP:573673620
5282 5282 a, t dbSNP:3789772
5307 5307 c, t dbSNP:530879426
5330 5330 a, g dbSNP:3789771
5362 5362 c, t dbSNP:780827217
5376 5376 c, t dbSNP:540821249
5378 5378 c, t dbSNP:774013389
5380 5380 g, t dbSNP:199792377
5382 5382 c, t dbSNP:748441886
5384 5384 c, t dbSNP:74377102
5402 5402 c, t dbSNP:184831590
5404 5404 a, g dbSNP:767275665
5409 5409 c, t dbSNP:543539925
5417 5417 -, a dbSNP:374561436
5419 5419 c, t dbSNP:756037371
5452 5452 c, g dbSNP:188142353
5470 5470 c, t dbSNP:777886701
5490 5490 a, g dbSNP:749376705
5540 5540 a, g dbSNP:764038855
5544 5544 c, t dbSNP:6919266
5550 5550 a, g dbSNP:774861961

Target ORF information:

RefSeq Version NM_018100
Organism Homo sapiens (human)
Definition Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_018100

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
1501
1561
1621
1681
1741
1801
1861
1921
ATGGTGTCCA ATCCCGTGCA TGGCTTGCCC TTTCTTCCGG GCACGTCCTT TAAGGACTCT 
ACGAAAACAG CCTTCCACAG AAGTCAGACG CTGAGCTACA GGAACGGCTA TGCAATTGTT
CGACGTCCAA CAGTTGGGAT AGGCGGAGAC CGGCTCCAGT TCAACCAGCT GTCCCAGGCT
GAGCTGGATG AGTTGGCCAG TAAGGCACCA GTCTTAACTT ATGGCCAACC TAAACAAGCC
CCACCTGCGG ATTTTATTCC TGCGCATGTG GCCTTTGACA AAAAGGTACT GAAATTTGAT
GCCTATTTCC AAGAAGATGT TCCTATGTCA ACTGAGGAAC AGTATAGGAT CCGTCAGGTG
AACATTTACT ATTATCTAGA AGATGACAGC ATGTCTGTCA TAGAGCCTGT TGTAGAAAAT
TCTGGAATCC TTCAAGGCAA GTTAATAAAA CGCCAGCGGC TAGCCAAGAA TGACCGGGGT
GACCATTACC ATTGGAAAGA CCTAAATCGA GGAATAAACA TCACAATTTA TGGCAAAACT
TTCCGCGTTG TTGACTGTGA CCAATTCACA CAGGTATTTT TAGAAAGCCA AGGAATTGAG
TTAAATCCAC CAGAGAAGAT GGCTCTTGAT CCTTACACTG AACTCCGAAA ACAGCCTCTT
CGTAAGTATG TCACCCCATC AGACTTTGAT CAACTCAAGC AATTTCTCAC CTTTGACAAA
CAGGTCCTTC GATTCTATGC AATCTGGGAT GATACAGACA GCATGTATGG TGAATGTCGG
ACCTACATCA TTCATTACTA TCTTATGGAT GATACGGTGG AAATTCGAGA GGTCCACGAA
CGGAATGATG GGAGAGATCC TTTCCCACTC CTAATGAACC GCCAGCGTGT GCCCAAAGTT
TTGGTGGAAA ATGCAAAGAA CTTCCCTCAG TGTGTGCTAG AAATCTCTGA CCAAGAAGTG
TTGGAATGGT ATACTGCTAA AGACTTCATT GTTGGGAAGT CACTCACTAT CCTTGGGAGA
ACTTTCTTCA TTTATGATTG TGATCCATTT ACTCGACGGT ATTACAAAGA GAAGTTTGGA
ATCACTGATT TACCACGTAT TGATGTGAGC AAGCGGGAAC CACCTCCAGT AAAACAGGAG
TTGCCTCCTT ATAACGGTTT TGGACTAGTG GAAGATTCTG CTCAGAATTG TTTTGCTCTC
ATTCCAAAAG CTCCAAAAAA AGACGTTATT AAAATGCTGG TGAATGATAA CAAGGTGCTT
CGTTATTTGG CTGTACTGGA ATCCCCCATC CCAGAAGACA AAGACCGCAG ATTTGTCTTC
TCTTACTTTC TAGCTACCGA CATGATCAGT ATCTTTGAGC CTCCTGTTCG CAATTCTGGT
ATCATTGGGG GCAAGTACCT TGGCAGGACT AAAGTTGTTA AACCATACTC TACAGTGGAC
AACCCTGTCT ACTATGGCCC CAGTGACTTC TTCATTGGTG CTGTGATTGA AGTGTTTGGT
CACCGGTTCA TCATCCTTGA TACAGACGAG TATGTTTTGA AATACATGGA GAGCAACGCT
GCCCAGTATT CACCAGAAGC ACTCGCGTCA ATTCAGAACC ATGTCCGAAA GCGAGAAGCG
CCTGCTCCAG AAGCAGAAAG CAAGCAAACT GAAAAGGATC CAGGCGTGCA GGAATTGGAA
GCATTAATAG ACACAATTCA GAAGCAACTG AAAGATCACT CATGCAAAGA CAACATTCGT
GAGGCATTTC AAATTTATGA CAAGGAAGCT TCAGGATATG TGGACAGAGA CATGTTCTTT
AAAATCTGTG AATCGCTTAA CGTCCCAGTG GATGACTCCT TGGTTAAGGA GTTAATCAGG
ATGTGCTCTC ATGGAGAAGG CAAAATTAAC TACTATAACT TTGTTCGTGC TTTCTCAAAC
TGA

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