SLC24A1

solute carrier family 24 member 1

Summary

This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants588 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11537012815:65,914,282G/A—likely benign
rs19048898615:65,914,375T/C—benign
rs7932761115:65,914,393C/T—likely benign
rs88605134515:65,914,396G/A—uncertain significance
rs56277513515:65,914,440G/A—uncertain significance
rs7668046715:65,916,306C/T—likely benign
rs88605134615:65,916,346A/G—uncertain significance
rs77752253115:65,916,370T/C—uncertain significance
rs132961204915:65,916,419A/G—uncertain significance
rs88605134715:65,916,420T/C—uncertain significance
rs37573740415:65,916,444C/T—uncertain significance
rs19963417415:65,916,445G/C—benign
rs77353624515:65,916,464C/T—uncertain significance
rs20154993615:65,916,465G/A—uncertain significance
rs76644969315:65,916,473C/T—uncertain significance
rs75949045915:65,916,475G/A—likely benign
rs125257768915:65,916,479C/A—uncertain significance
rs119635593115:65,916,480A/G—uncertain significance
rs37490687515:65,916,481T/C—likely benign
rs36929398315:65,916,486G/T—uncertain significance
rs37155049515:65,916,488C/T—uncertain significance
rs75206602415:65,916,489G/A—uncertain significance
rs207441533215:65,916,492T/G—uncertain significance
rs75550800915:65,916,494C/T—uncertain significance
rs37501897415:65,916,496C/G—likely benign
rs77020349915:65,916,503C/G—uncertain significance
rs134274622315:65,916,508A/T—uncertain significance
rs156694553415:65,916,513T/A—pathogenic
rs18440084015:65,916,520C/T—likely benign
rs374317115:65,916,527A/T—benign
rs207441723315:65,916,538C/T—likely benign
rs93354217415:65,916,550C/T—likely benign
rs75965433815:65,916,551C/T—uncertain significance
rs88605134815:65,916,552G/A—conflicting classifications of pathogenicity
rs100665674115:65,916,562C/T—likely benign
rs77555624115:65,916,564C/T—uncertain significance
rs100180014015:65,916,565A/C—likely benign
rs76033017815:65,916,566T/C—likely benign
rs207441887415:65,916,568G/A—likely benign
rs76395740515:65,916,570G/A—pathogenic
rs117858600815:65,916,578G/C—uncertain significance
rs254835395915:65,916,587C/T—uncertain significance
rs128954600615:65,916,590C/T—pathogenic
rs53309244115:65,916,593C/G—conflicting classifications of pathogenicity
rs129795899715:65,916,598A/G—uncertain significance
rs121941875215:65,916,604G/A—likely benign
rs36987929915:65,916,611C/T—uncertain significance
rs254835409815:65,916,617C/T—uncertain significance
rs37609995515:65,916,624G/T—uncertain significance
rs75639437315:65,916,631G/A—likely benign
rs37052761815:65,916,640G/T—uncertain significance
rs77917461515:65,916,649C/T—likely benign
rs115984963715:65,916,652C/T—likely benign
rs77953839315:65,916,653C/G—uncertain significance
rs214145756515:65,916,657C/T—uncertain significance
rs96614195815:65,916,666G/C—uncertain significance
rs37491497715:65,916,670C/T—likely benign
rs74632583115:65,916,671G/A—uncertain significance
rs7458737315:65,916,676G/A—uncertain significance
rs76176327715:65,916,702C/A—uncertain significance
rs37065582115:65,916,707G/A—uncertain significance
rs75309632515:65,916,712C/T—likely benign
rs96922397515:65,916,716G/T—uncertain significance
rs91322734015:65,916,717A/G—uncertain significance
rs7700916215:65,916,720A/T—uncertain significance
rs37549539015:65,916,727A/G—conflicting classifications of pathogenicity
rs254835462215:65,916,746A/G—uncertain significance
rs207442816915:65,916,755A/G—uncertain significance
rs36865655415:65,916,759T/C—uncertain significance
rs132093674915:65,916,767A/G—uncertain significance
rs20175136915:65,916,771C/G—likely benign
rs132165527915:65,916,779A/G—uncertain significance
rs214145907715:65,916,809A/G—uncertain significance
rs100164230415:65,916,834G/A—uncertain significance
rs133002101515:65,916,841G/A—likely benign
rs55822988815:65,916,849C/A—uncertain significance
rs254835493415:65,916,850C/T—likely benign
rs144663658115:65,916,859C/T—likely benign
rs18915250315:65,916,868A/G—likely benign
rs141172244015:65,916,874T/C—likely benign
rs254835502515:65,916,875T/G—uncertain significance
rs144423493615:65,916,882C/T—uncertain significance
rs214145986615:65,916,893A/G—uncertain significance
rs20004785515:65,916,899C/T—pathogenic
rs75059898615:65,916,901A/G—likely benign
rs207443478715:65,916,904A/C—likely benign
rs78018256815:65,916,913G/T—uncertain significance
rs100475580115:65,916,921C/T—uncertain significance
rs78120545015:65,916,926C/T—uncertain significance
rs156694641015:65,916,930G/A—uncertain significance
rs214146046615:65,916,937A/G—likely benign
rs254835533315:65,916,948A/G—uncertain significance
rs14867644815:65,916,949C/T—benign
rs127571220115:65,916,957C/G—uncertain significance
rs207443766015:65,916,962G/C—uncertain significance
rs127800802115:65,916,971A/G—uncertain significance
rs254835545615:65,916,975T/G—uncertain significance
rs93357708615:65,916,990C/T—uncertain significance
rs126144309715:65,916,996G/A—uncertain significance
rs120005419715:65,916,999G/A—uncertain significance

Showing 100 of 588 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.