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/A—likely benign
rs7715701244:103,822,489C/G—uncertain significance
rs46452154:103,825,248T/G——
rs117227794:103,827,488T/Gintron variant—
rs24763049554:103,827,743C/T—uncertain significance
rs5598672524:103,827,780T/C—likely benign
rs65330304:103,830,696T/Cintron variant—
rs1446719164:103,831,675C/T—uncertain significance
rs17352868744:103,831,677T/A—likely benign
rs39744794:103,842,031A/Gintron variant—
rs1431483724:103,847,267G/A——
rs1444271634:103,853,306T/C—likely benign
rs5470044294:103,853,316C/G—uncertain significance
rs3746249944:103,853,341T/C—uncertain significance
rs3708217364:103,853,380C/T—uncertain significance
rs12772904394:103,853,386C/T—uncertain significance
rs9001713874:103,853,428C/T—uncertain significance
rs100173134:103,861,380A/C——
rs98843974:103,864,660G/C——
rs3680385804:103,866,360A/G—uncertain significance
rs24764226064:103,866,462T/C—uncertain significance
rs3772758224:103,867,812C/G—uncertain significance
rs7808674944:103,867,842T/C—likely benign
rs7479500744:103,870,432G/A—uncertain significance
rs7749198564:103,870,476A/G—uncertain significance
rs7666802784:103,870,546T/C—likely 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/C—uncertain significance
rs2018800024:103,911,041T/C—uncertain significance
rs24765239664:103,911,053C/A—uncertain significance
rs7653342804:103,911,064T/G—uncertain significance
rs3772697554:103,911,071G/A—uncertain significance
rs7750095094:103,911,087A/C—uncertain significance
rs13621307474:103,911,097C/G—uncertain significance
rs76950964:103,932,556C/Tintron variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.