SLC26A1

solute carrier family 26 member 1

Summary

This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants314 total

rsidPosition (GRCh37)AllelesClassClinVar
rs45837054:973,036C/Tbenign
rs100081644:973,371G/Abenign
rs1472500214:982,345T/Clikely benign
rs20450644:982,347C/Tbenign
rs7789481204:982,635C/Tuncertain significance
rs25340142154:982,644C/Tuncertain significance
rs1487268804:982,664C/Tuncertain significance
rs7677730104:982,670G/Auncertain significance
rs3765558314:982,677C/Tuncertain significance
rs25340145604:982,683C/Tuncertain significance
rs17139666384:982,702C/Tlikely benign
rs25340146684:982,704G/Auncertain significance
rs2000699494:982,718G/Aconflicting classifications of pathogenicity
rs1476694084:982,720G/Clikely benign
rs7713888554:982,732C/Tlikely benign
rs1488857654:982,737C/Tuncertain significance
rs7760944014:982,746C/Guncertain significance
rs25340151084:982,757A/Guncertain significance
rs1440406884:982,762G/Cuncertain significance
rs1510231114:982,768C/Tlikely benign
rs1996223074:982,769A/Guncertain significance
rs5472829914:982,774C/Tbenign
rs3753170284:982,815C/Tuncertain significance
rs1464661854:982,821C/Aconflicting classifications of pathogenicity
rs2003602554:982,826C/Tuncertain significance
rs14618856204:982,827G/Auncertain significance
rs12343760694:982,850C/Tuncertain significance
rs7556040734:982,851C/Tuncertain significance
rs37966214:982,852G/Abenign
rs11982788634:982,853G/Auncertain significance
rs1445674764:982,858G/Alikely benign
rs17139898294:982,872G/Tuncertain significance
rs7482059664:982,873C/Tlikely benign
rs3774352064:982,879G/Alikely benign
rs7707788964:982,880C/Guncertain significance
rs3735807884:982,894T/Clikely benign
rs7649246434:982,905C/Tuncertain significance
rs7518907054:982,906G/Alikely benign
rs7544246614:982,910G/Auncertain significance
rs7562457684:982,914C/Tuncertain significance
rs7492998304:982,924C/Tlikely benign
rs14357860554:982,928G/Auncertain significance
rs7456841204:982,934G/Tuncertain significance
rs1482000474:982,942C/Tlikely benign
rs7762910824:982,943G/Auncertain significance
rs2007983284:982,962G/Cuncertain significance
rs7566196964:982,967G/Auncertain significance
rs360691604:983,014G/Clikely benign
rs7658817324:983,027C/Guncertain significance
rs1995493674:983,041C/Tlikely benign
rs2015036614:983,042G/Auncertain significance
rs359355554:983,050G/Alikely benign
rs3769098974:983,059C/Tuncertain significance
rs37966224:983,060C/Tbenign
rs7544067484:983,072T/Cuncertain significance
rs5528962794:983,092C/Tlikely benign
rs7583698014:983,093G/Auncertain significance
rs3879074854:983,094G/Auncertain significance
rs14848671644:983,106G/Auncertain significance
rs7775238984:983,114C/Tuncertain significance
rs1433818734:983,115G/Aconflicting classifications of pathogenicity
rs21530165184:983,116C/Tlikely benign
rs1383530784:983,121C/Tuncertain significance
rs1439150714:983,130G/Tuncertain significance
rs2006568804:983,137G/Alikely benign
rs3717388264:983,142C/Tuncertain significance
rs7525626264:983,161G/Cuncertain significance
rs1467112244:983,170C/Tlikely benign
rs7491613174:983,171G/Auncertain significance
rs1871103814:983,178C/Tlikely benign
rs25340190574:983,187C/Tuncertain significance
rs9541351974:983,193G/Alikely benign
rs17140391554:983,195G/Tuncertain significance
rs3696200874:983,196C/Tconflicting classifications of pathogenicity
rs3733219584:983,197G/Alikely benign
rs3754875224:983,207C/Tuncertain significance
rs3688063024:983,208G/Tuncertain significance
rs2011061514:983,216C/Tlikely benign
rs3879074794:983,218G/Auncertain significance
rs7637861594:983,220C/Tuncertain significance
rs7538830884:983,221G/Alikely benign
rs9241856414:983,228C/Auncertain significance
rs13643787414:983,234A/Guncertain significance
rs7499321784:983,237G/Auncertain significance
rs10575186524:983,240A/Cuncertain significance
rs1996946184:983,247C/Tlikely benign
rs7578700824:983,248G/Alikely benign
rs7466278744:983,263G/Alikely benign
rs3879074884:983,268C/Tuncertain significance
rs10441514304:983,283T/Cuncertain significance
rs5520042484:983,293C/Tlikely benign
rs7715897444:983,294G/Auncertain significance
rs5580279304:983,295C/Tuncertain significance
rs7722601454:983,310C/Tuncertain significance
rs7643160494:983,316C/Tuncertain significance
rs7615511924:983,319C/Tuncertain significance
rs3879074804:983,321G/Auncertain significance
rs3704918884:983,323C/Tlikely benign
rs9230990504:983,324G/Auncertain significance
rs7579604044:983,333C/Tuncertain significance

Showing 100 of 314 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.