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/Auncertain significance
rs130122431120:19,193,494C/Tuncertain significance
rs198144161620:19,193,503A/Cuncertain significance
rs128691767020:19,193,505G/Cuncertain significance
rs75062846420:19,193,515C/Tuncertain significance
rs75629732320:19,193,530G/Auncertain significance
rs37719189120:19,193,566T/Cuncertain significance
rs608154120:19,212,890A/Gintron variant
rs76529332520:19,261,689G/Auncertain significance
rs75277040020:19,261,693A/Cuncertain significance
rs37651391920:19,261,705G/Auncertain significance
rs77949247220:19,261,715G/Cuncertain 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/Tuncertain significance
rs37604721920:19,496,167G/Auncertain significance
rs75593119520:19,565,616G/Auncertain significance
rs251471257820:19,566,114G/Cuncertain significance
rs379026820:19,571,581G/Cupstream gene variant
rs481487320:19,616,429C/Tintron variant
rs727080720:19,631,980T/Cintron variant
rs141241179720:19,634,759G/Clikely benign
rs610611520:19,648,558C/Aintron variant
rs14889704520:19,654,276C/Glikely benign
rs118909419620:19,654,280T/Cuncertain significance
rs76771081420:19,654,296G/Auncertain significance
rs120409299420:19,662,548G/Tuncertain significance
rs14472247420:19,662,551G/Auncertain significance
rs13858482120:19,662,560G/Auncertain significance
rs37190381220:19,662,566G/Auncertain significance
rs76535799020:19,662,608G/Auncertain significance
rs133547388620:19,664,945C/Tuncertain significance
rs212274190620:19,664,948C/Tuncertain significance
rs77015223420:19,664,951T/Cuncertain significance
rs14079775620:19,665,778A/Guncertain significance
rs20055208320:19,665,810A/Guncertain significance
rs251477159820:19,665,860G/Cuncertain significance
rs20083204520:19,665,876C/Tuncertain significance
rs14314615620:19,665,894G/Auncertain significance
rs77722306220:19,665,996G/Auncertain significance
rs76979738720:19,673,993G/Tuncertain significance
rs143015062420:19,677,450A/Tuncertain significance
rs251477794720:19,677,460C/Auncertain significance
rs14052806220:19,677,480A/Cuncertain significance
rs74861100220:19,677,516G/Auncertain significance
rs3469661420:19,679,324C/Tbenign
rs92226256920:19,701,725A/Tuncertain significance
rs140182386020:19,701,729T/Cuncertain significance
rs74688785520:19,701,773G/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.