SLC39A8

solute carrier family 39 member 8

Summary

This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]

Known Variants170 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1513714:103,174,309C/T—benign
rs356083534:103,174,321C/T—benign
rs738365484:103,174,425C/T—benign
rs1513704:103,174,491A/G—benign
rs170322864:103,174,653G/T—likely benign
rs170322904:103,174,728T/C—benign
rs1920684:103,174,819G/A—benign
rs1909046084:103,180,675C/G—likely benign
rs1892154:103,180,875C/T—benign
rs7722361524:103,183,139G/A—uncertain significance
rs1513924:103,183,935T/C—benign
rs10451554:103,184,064C/T—benign
rs1513934:103,184,089A/G—benign
rs12376885264:103,184,204C/T—likely benign
rs24763325684:103,184,212C/G—uncertain significance
rs7727191834:103,184,213G/A—likely benign
rs2016215764:103,184,225A/G—likely benign
rs1125196234:103,184,239A/G—benign
rs24763327154:103,184,247G/T—uncertain significance
rs24763331914:103,184,297A/G—likely benign
rs1428630744:103,184,301G/A—pathogenic
rs14758639424:103,184,325C/G—uncertain significance
rs5415678974:103,184,331A/G—uncertain significance
rs3725724124:103,184,361G/C—likely benign
rs1847478654:103,184,368T/C—likely benign
rs76728064:103,184,590T/C—benign
rs589281044:103,184,614C/T—benign
rs1513944:103,184,652G/Cintron variantbenign
rs1167674194:103,188,478A/G—likely benign
rs1465294224:103,188,494C/T—likely benign
rs9863057574:103,188,632T/C—likely benign
rs1995485244:103,188,689T/C—likely benign
rs131073254:103,188,709C/Tmissense variantbenign
rs1435268874:103,188,710G/A—likely benign
rs1467598174:103,188,714T/C—uncertain significance
rs9953266644:103,188,749A/G—likely benign
rs14238435814:103,188,760A/T—uncertain significance
rs5283959874:103,188,787C/T—likely benign
rs11316915024:103,188,789T/C—uncertain significance
rs24763462374:103,188,805C/T—uncertain significance
rs7467533684:103,188,809A/G—likely benign
rs5649333874:103,188,837A/G—likely benign
rs11939406954:103,188,841G/T—likely benign
rs3741957964:103,188,843A/T—likely benign
rs7750902924:103,188,844G/A—likely benign
rs24763472844:103,189,026T/A—uncertain significance
rs14228312314:103,189,035C/T—uncertain significance
rs178239664:103,189,036A/G—benign
rs17321738184:103,189,051A/T—likely pathogenic
rs17321740324:103,189,057G/C—uncertain significance
rs8643096594:103,189,058A/Tmissense variantpathogenic
rs1449810674:103,189,070G/T—uncertain significance
rs8643096604:103,189,073C/Gmissense variantpathogenic
rs10575217274:103,189,099G/Tstop gainedpathogenic
rs7557867844:103,189,112A/G—conflicting classifications of pathogenicity
rs1490677634:103,189,114C/T—likely benign
rs1430667364:103,189,117C/G—likely benign
rs3752807154:103,189,126G/A—likely benign
rs7653788084:103,189,146C/T—uncertain significance
rs3716977164:103,189,147G/A—likely benign
rs3760005624:103,189,154G/A—uncertain significance
rs15785576664:103,189,162C/G—uncertain significance
rs14159905824:103,189,197C/T—uncertain significance
rs24763481584:103,189,201C/G—uncertain significance
rs15605271804:103,189,205C/G—uncertain significance
rs17321875224:103,189,235T/C—uncertain significance
rs7488703914:103,189,236C/T—uncertain significance
rs7781971074:103,189,245A/C—benign
rs7713046704:103,189,249C/A—likely benign
rs607653204:103,189,345A/G—benign
rs131143434:103,189,416G/Aintron variantbenign
rs590148254:103,189,422C/A—benign
rs104891244:103,189,437C/T—likely benign
rs46990064:103,190,828G/Cintron variant—
rs2338284:103,199,767G/A——
rs100141454:103,200,577A/Gintron variant—
rs2338144:103,208,703T/Cintron variant—
rs2338114:103,211,254A/Cintron variant—
rs2338064:103,212,846T/Cintron variant—
rs3969024:103,215,671A/C——
rs623279494:103,216,782A/T——
rs46988444:103,217,980C/Tintron variant—
rs9859894:103,225,255C/A—benign
rs21490329264:103,225,472A/G—uncertain significance
rs7463000384:103,225,490C/A—uncertain significance
rs110977734:103,225,513T/C—benign
rs14019239774:103,225,531A/T—likely benign
rs7721122054:103,225,556C/A—uncertain significance
rs10196223614:103,225,563T/C—uncertain significance
rs1479125524:103,225,569G/C—likely benign
rs7536485354:103,225,598T/C—likely benign
rs24764442064:103,225,625T/C—uncertain significance
rs3769105894:103,225,642T/C—conflicting classifications of pathogenicity
rs7509499784:103,225,647G/C—likely benign
rs3699135194:103,225,656C/A—likely benign
rs412757374:103,225,704C/T—benign
rs100173064:103,225,947T/A—benign
rs576149264:103,225,989A/G—benign
rs1432878754:103,226,161T/C—likely benign
rs7668566854:103,226,194A/C—likely benign

Showing 100 of 170 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.