OCA2

OCA2 melanosomal transmembrane protein

Summary

This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants1,022 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53460760515:27,975,909A/G——
rs53740771815:27,985,208T/C——
rs1756584115:27,997,247G/Adownstream gene variant—
rs7337033515:27,998,235T/Cdownstream gene variant—
rs203022277515:28,000,124G/T—uncertain significance
rs11215509815:28,000,163C/G—uncertain significance
rs7504326615:28,000,167G/C—uncertain significance
rs77618083915:28,000,234A/G—uncertain significance
rs15121025815:28,000,263C/T—likely benign
rs18229068715:28,000,368G/A—uncertain significance
rs19273423015:28,000,480T/C—uncertain significance
rs717526615:28,000,484T/C—benign
rs36918982715:28,000,513C/T—uncertain significance
rs13822842515:28,000,533A/G—uncertain significance
rs37330156215:28,000,537A/G—likely benign
rs77093450715:28,000,545C/T—uncertain significance
rs20156974815:28,000,549C/A—likely benign
rs75939615115:28,000,550A/T—uncertain significance
rs3470470315:28,000,551C/T—benign
rs20039661115:28,000,554C/T—conflicting classifications of pathogenicity
rs20091866215:28,000,557G/A—uncertain significance
rs18310106315:28,000,560C/G—pathogenic
rs203026860015:28,000,570A/C—pathogenic
rs118407630415:28,000,576C/T—uncertain significance
rs76388197515:28,000,578T/A—conflicting classifications of pathogenicity
rs250408514015:28,000,587T/G—uncertain significance
rs215097072815:28,000,592G/T—uncertain significance
rs126796708715:28,000,600C/T—uncertain significance
rs76697071615:28,000,605T/C—uncertain significance
rs250408553415:28,000,606T/G—likely benign
rs250408562515:28,000,609G/A—likely benign
rs203027487615:28,000,613C/T—uncertain significance
rs37776664615:28,000,614C/T—uncertain significance
rs77938271115:28,000,618C/A—pathogenic
rs141012926115:28,000,623A/C—likely benign
rs250408615215:28,000,632A/C—likely pathogenic
rs37095429615:28,000,637T/C—likely benign
rs649723315:28,043,390T/A——
rs7805008015:28,047,493A/Gintron variant—
rs1259227115:28,089,922C/T—benign
rs11393735215:28,089,927G/A—benign
rs75438360415:28,090,088A/C—likely benign
rs250516200315:28,090,090G/T—likely benign
rs14557795415:28,090,094T/C—conflicting classifications of pathogenicity
rs122096340215:28,090,097A/C—likely benign
rs138998492415:28,090,104C/T—likely pathogenic
rs134202623815:28,090,106T/C—uncertain significance
rs75561991115:28,090,107G/A—likely benign
rs76577990515:28,090,112A/T—conflicting classifications of pathogenicity
rs14650519915:28,090,113T/C—likely benign
rs75885906215:28,090,123G/C—uncertain significance
rs74734055415:28,090,125G/C—conflicting classifications of pathogenicity
rs145004906615:28,090,128C/T—likely benign
rs203547813115:28,090,131A/C—pathogenic
rs117038863115:28,090,134T/C—likely benign
rs250516364115:28,090,136C/A—pathogenic
rs78147117315:28,090,142G/A—likely pathogenic
rs76997391215:28,090,148C/A—uncertain significance
rs215138037115:28,090,152C/T—likely benign
rs203547916915:28,090,154C/G—uncertain significance
rs102681178315:28,090,159C/T—pathogenic
rs203547958815:28,090,161C/T—likely benign
rs76165788415:28,090,164G/C—likely benign
rs77289652115:28,090,167G/A—likely benign
rs1259230715:28,090,173C/T—benign
rs14773638515:28,090,174G/A—pathogenic
rs76346268615:28,090,176C/T—conflicting classifications of pathogenicity
rs20045722715:28,090,177G/T—likely pathogenic
rs14298889715:28,090,178C/T—pathogenic
rs14486386415:28,090,179G/A—likely benign
rs78131909015:28,090,182A/G—likely benign
rs14815377615:28,090,183A/G—uncertain significance
rs250516649615:28,090,188T/G—likely benign
rs79704583915:28,090,193C/Tmissense variantpathogenic
rs75636683915:28,090,194G/A—likely benign
rs14194921215:28,090,198C/T—pathogenic
rs7400524815:28,090,326G/A—benign
rs187484115:28,096,321A/G—benign
rs803080015:28,096,349T/C—benign
rs802580415:28,096,453A/G—benign
rs250527742115:28,096,509G/A—likely benign
rs75404241515:28,096,510C/G—likely benign
rs77880641615:28,096,512G/A—likely benign
rs203574393215:28,096,514C/A—likely benign
rs37040911915:28,096,518A/G—likely benign
rs77183576615:28,096,519G/A—likely benign
rs77755422815:28,096,520C/T—likely benign
rs106479695615:28,096,526A/C—pathogenic
rs77063541515:28,096,527C/A—pathogenic
rs215141220515:28,096,531C/T—uncertain significance
rs137606796815:28,096,535G/A—likely benign
rs77681475515:28,096,536C/Tmissense variantpathogenic
rs180041915:28,096,538A/Gsynonymous variantbenign
rs76937010815:28,096,539G/T—likely pathogenic
rs98778049615:28,096,542C/T—pathogenic
rs77482233015:28,096,543C/G—pathogenic
rs76238893715:28,096,544G/A—conflicting classifications of pathogenicity
rs14011974415:28,096,553G/C—likely benign
rs75409370815:28,096,555C/A—uncertain significance
rs75511188715:28,096,556A/G—likely benign

Showing 100 of 1,022 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.