SLC9B1

solute carrier family 9 member B1

Summary

The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Known Variants42 total

rsidPosition (GRCh37)AllelesClassClinVar
rs637498884:103,806,378G/Cmissense variantpathogenic
rs2233084:103,812,499A/Gdownstream gene variant
rs46990324:103,813,881C/Tdownstream gene variant
rs24762889864:103,822,484C/Alikely benign
rs7715701244:103,822,489C/Guncertain significance
rs46452154:103,825,248T/G
rs117227794:103,827,488T/Gintron variant
rs24763049554:103,827,743C/Tuncertain significance
rs5598672524:103,827,780T/Clikely benign
rs65330304:103,830,696T/Cintron variant
rs1446719164:103,831,675C/Tuncertain significance
rs17352868744:103,831,677T/Alikely benign
rs39744794:103,842,031A/Gintron variant
rs1431483724:103,847,267G/A
rs1444271634:103,853,306T/Clikely benign
rs5470044294:103,853,316C/Guncertain significance
rs3746249944:103,853,341T/Cuncertain significance
rs3708217364:103,853,380C/Tuncertain significance
rs12772904394:103,853,386C/Tuncertain significance
rs9001713874:103,853,428C/Tuncertain significance
rs100173134:103,861,380A/C
rs98843974:103,864,660G/C
rs3680385804:103,866,360A/Guncertain significance
rs24764226064:103,866,462T/Cuncertain significance
rs3772758224:103,867,812C/Guncertain significance
rs7808674944:103,867,842T/Clikely benign
rs7479500744:103,870,432G/Auncertain significance
rs7749198564:103,870,476A/Guncertain significance
rs7666802784:103,870,546T/Clikely benign
rs68396354:103,872,854C/Aintron variant
rs39744814:103,877,991T/G
rs100063274:103,890,980T/Cintron variant
rs76594684:103,895,317T/A
rs76596504:103,895,398T/A
rs7487166954:103,911,013T/Cuncertain significance
rs2018800024:103,911,041T/Cuncertain significance
rs24765239664:103,911,053C/Auncertain significance
rs7653342804:103,911,064T/Guncertain significance
rs3772697554:103,911,071G/Auncertain significance
rs7750095094:103,911,087A/Cuncertain significance
rs13621307474:103,911,097C/Guncertain significance
rs76950964:103,932,556C/Tintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.