SLC24A3

solute carrier family 24 member 3

Summary

Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]

Known Variants62 total

rsidPosition (GRCh37)AllelesClassClinVar
rs251475339720:19,193,493C/A—uncertain significance
rs130122431120:19,193,494C/T—uncertain significance
rs198144161620:19,193,503A/C—uncertain significance
rs128691767020:19,193,505G/C—uncertain significance
rs75062846420:19,193,515C/T—uncertain significance
rs75629732320:19,193,530G/A—uncertain significance
rs37719189120:19,193,566T/C—uncertain significance
rs608154120:19,212,890A/Gintron variant—
rs76529332520:19,261,689G/A—uncertain significance
rs75277040020:19,261,693A/C—uncertain significance
rs37651391920:19,261,705G/A—uncertain significance
rs77949247220:19,261,715G/C—uncertain significance
rs382797820:19,281,291C/A——
rs608156520:19,287,904G/Aintron variant—
rs608156820:19,298,788C/A——
rs608156920:19,303,786G/C——
rs56544486120:19,360,120G/A——
rs242423420:19,363,979T/Cintron variant—
rs11733380020:19,434,858A/Gregulatory region variant—
rs607551620:19,455,985G/A——
rs603535520:19,465,089T/Aintron variant—
rs608161320:19,465,907G/Aintron variant—
rs604613720:19,466,832A/Gintron variant—
rs481486020:19,469,395A/T——
rs481486120:19,469,534G/C——
rs481486420:19,469,817G/T——
rs604614020:19,476,530G/Aintron variant—
rs20103995420:19,496,138A/T—uncertain significance
rs37604721920:19,496,167G/A—uncertain significance
rs75593119520:19,565,616G/A—uncertain significance
rs251471257820:19,566,114G/C—uncertain significance
rs379026820:19,571,581G/Cupstream gene variant—
rs481487320:19,616,429C/Tintron variant—
rs727080720:19,631,980T/Cintron variant—
rs141241179720:19,634,759G/C—likely benign
rs610611520:19,648,558C/Aintron variant—
rs14889704520:19,654,276C/G—likely benign
rs118909419620:19,654,280T/C—uncertain significance
rs76771081420:19,654,296G/A—uncertain significance
rs120409299420:19,662,548G/T—uncertain significance
rs14472247420:19,662,551G/A—uncertain significance
rs13858482120:19,662,560G/A—uncertain significance
rs37190381220:19,662,566G/A—uncertain significance
rs76535799020:19,662,608G/A—uncertain significance
rs133547388620:19,664,945C/T—uncertain significance
rs212274190620:19,664,948C/T—uncertain significance
rs77015223420:19,664,951T/C—uncertain significance
rs14079775620:19,665,778A/G—uncertain significance
rs20055208320:19,665,810A/G—uncertain significance
rs251477159820:19,665,860G/C—uncertain significance
rs20083204520:19,665,876C/T—uncertain significance
rs14314615620:19,665,894G/A—uncertain significance
rs77722306220:19,665,996G/A—uncertain significance
rs76979738720:19,673,993G/T—uncertain significance
rs143015062420:19,677,450A/T—uncertain significance
rs251477794720:19,677,460C/A—uncertain significance
rs14052806220:19,677,480A/C—uncertain significance
rs74861100220:19,677,516G/A—uncertain significance
rs3469661420:19,679,324C/T—benign
rs92226256920:19,701,725A/T—uncertain significance
rs140182386020:19,701,729T/C—uncertain significance
rs74688785520:19,701,773G/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.