AP1S1

adaptor related protein complex 1 subunit sigma 1

Summary

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]

Known Variants117 total

rsidPosition (GRCh37)AllelesClassClinVar
rs801714467:100,797,632G/A—benign
rs13813849257:100,797,797T/C—uncertain significance
rs13880296677:100,797,805T/A—likely benign
rs13259220537:100,797,806G/A—likely benign
rs7490625547:100,797,809C/A—likely benign
rs25350289027:100,797,810G/A—likely benign
rs25350289097:100,797,813G/T—likely benign
rs22395387:100,798,728G/T——
rs47274807:100,799,573G/A—benign
rs1463330947:100,799,864A/G—benign
rs7497200887:100,799,870C/A—likely benign
rs25350343757:100,799,871A/G—likely benign
rs7538113777:100,799,878C/T—uncertain significance
rs1896580397:100,799,887C/T—benign
rs3773856917:100,799,889A/G—likely benign
rs17969955227:100,799,911C/T—likely benign
rs17969955637:100,799,914C/A—likely benign
rs3704604337:100,799,931C/G—pathogenic
rs7756889547:100,799,940T/G—likely benign
rs7644809517:100,799,943G/A—likely benign
rs25350346767:100,799,958G/A—likely benign
rs25350347007:100,799,967G/A—likely benign
rs773877527:100,799,970C/T—benign
rs1483055417:100,799,988C/G—likely benign
rs12342773517:100,799,995C/A—likely benign
rs13856413937:100,799,997A/G—likely benign
rs25350348477:100,800,003C/T—likely benign
rs13563451507:100,800,006G/A—likely benign
rs5634658097:100,800,018C/T—benign
rs25350348817:100,800,019C/T—likely benign
rs7713164687:100,800,024G/A—benign
rs17969987397:100,800,060C/G—likely benign
rs10048094277:100,800,061C/G—likely benign
rs25350350467:100,800,063C/T—likely benign
rs13797023857:100,800,066C/T—likely benign
rs25350350567:100,800,067T/C—likely benign
rs47274817:100,800,131C/T—benign
rs358113907:100,800,305C/T—benign
rs20746867:100,800,635A/G—benign
rs25350368267:100,800,640A/G—likely benign
rs7770118677:100,800,641T/C—likely benign
rs7620821767:100,800,643C/T—likely benign
rs1875033507:100,800,644G/A—likely benign
rs5641730637:100,800,647C/G—likely benign
rs17970089757:100,800,648C/T—likely benign
rs15842038497:100,800,651T/G—likely benign
rs3715729777:100,800,653C/T—conflicting classifications of pathogenicity
rs5729461607:100,800,654G/A—likely benign
rs7514308537:100,800,656A/G—pathogenic
rs7544967007:100,800,657G/C—pathogenic
rs9817476247:100,800,661T/G—pathogenic
rs779202507:100,800,676C/T—benign
rs1926015897:100,800,682C/T—likely benign
rs7463508487:100,800,688C/G—uncertain significance
rs15842039227:100,800,695C/T—pathogenic
rs12721678147:100,800,706G/A—likely benign
rs3689239197:100,800,709C/T—likely benign
rs25350370957:100,800,712C/T—likely benign
rs25350371137:100,800,715A/T—likely benign
rs25350371717:100,800,730C/T—likely benign
rs7806294857:100,800,736C/G—pathogenic
rs3714036917:100,800,745C/G—likely benign
rs25350372457:100,800,754A/G—likely benign
rs13101102897:100,800,768T/A—pathogenic
rs12274727017:100,800,775C/A—likely benign
rs12695453417:100,800,776C/T—likely benign
rs3766309907:100,800,778C/T—likely benign
rs3699428217:100,800,783C/T—likely benign
rs9421773027:100,800,785C/A—likely benign
rs13899247277:100,800,786C/T—likely benign
rs20746827:100,802,140T/C—benign
rs69544087:100,802,316C/T—benign
rs17970415547:100,802,326C/T—likely benign
rs3697232847:100,802,329C/T—likely benign
rs3737436507:100,802,330G/A—likely benign
rs25350413087:100,802,334T/C—likely benign
rs25350413277:100,802,336C/A—likely benign
rs7473435737:100,802,342G/T—likely benign
rs12598224197:100,802,345C/T—likely benign
rs17554806097:100,802,346G/A—uncertain significance
rs7555877977:100,802,350T/C—uncertain significance
rs17970421047:100,802,354C/T—likely benign
rs15842051477:100,802,357C/T—likely benign
rs7817606487:100,802,366C/T—likely benign
rs7483252467:100,802,369T/C—likely benign
rs17970425917:100,802,387C/T—likely benign
rs5715297197:100,802,405G/C—uncertain significance
rs7593148857:100,802,406G/C—uncertain significance
rs2003107437:100,802,407G/C—conflicting classifications of pathogenicity
rs1424859737:100,802,411G/T—likely benign
rs7634664857:100,802,412G/C—uncertain significance
rs9828107197:100,802,413A/C—uncertain significance
rs17970435817:100,802,416T/A—uncertain significance
rs7649573187:100,802,432G/A—likely benign
rs1438718387:100,802,442C/T—likely benign
rs12664412337:100,802,444G/A—likely benign
rs13381572597:100,802,450C/T—likely benign
rs7530862827:100,802,453C/T—likely benign
rs3726614587:100,802,462T/C—likely benign
rs2004153387:100,802,474A/G—likely benign

Showing 100 of 117 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.