SLC24A5

solute carrier family 24 member 5

Summary

This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]

Known Variants201 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs550245060	15:48,413,251	A/G	—	uncertain significance
rs199613368	15:48,413,257	G/A	—	uncertain significance
rs749818790	15:48,413,265	A/C	—	likely benign
rs1217469928	15:48,413,267	G/A	—	pathogenic
rs199764262	15:48,413,269	G/C	—	likely benign
rs189224179	15:48,413,270	C/T	—	uncertain significance
rs200329662	15:48,413,271	G/A	—	likely benign
rs775187093	15:48,413,289	C/T	—	likely benign
rs370452726	15:48,413,290	G/C	—	uncertain significance
rs373895181	15:48,413,296	C/A	—	uncertain significance
rs751629940	15:48,413,306	C/G	—	uncertain significance
rs2038674832	15:48,413,311	C/T	—	uncertain significance
rs372618146	15:48,413,314	C/T	—	likely benign
rs752983478	15:48,413,323	T/C	—	uncertain significance
rs201625814	15:48,413,328	G/A	—	likely benign
rs201294244	15:48,413,333	C/T	—	uncertain significance
rs148779787	15:48,413,343	A/G	—	likely benign
rs1235896523	15:48,413,356	G/T	—	uncertain significance
rs2504568018	15:48,413,363	G/A	—	likely pathogenic
rs1222312826	15:48,413,370	G/A	—	likely benign
rs746665903	15:48,413,375	T/G	—	likely benign
rs895384850	15:48,413,379	G/A	—	likely benign
rs1334844316	15:48,414,050	A/T	—	uncertain significance
rs2504569287	15:48,414,054	G/T	—	uncertain significance
rs142393233	15:48,414,063	C/T	—	uncertain significance
rs754597154	15:48,414,085	A/G	—	likely benign
rs558029828	15:48,414,097	C/T	—	likely benign
rs2504569412	15:48,414,101	G/A	—	uncertain significance
rs773135046	15:48,414,102	G/A	—	uncertain significance
rs2038682865	15:48,414,112	G/A	—	likely benign
rs147601285	15:48,414,116	C/T	—	pathogenic
rs775687860	15:48,414,122	C/T	—	uncertain significance
rs760875527	15:48,414,123	G/A	—	uncertain significance
rs2038683003	15:48,414,125	A/G	—	uncertain significance
rs764407321	15:48,414,137	A/G	—	uncertain significance
rs142056637	15:48,414,148	T/G	—	pathogenic
rs750899396	15:48,414,172	C/A	—	uncertain significance
rs751066890	15:48,414,184	T/C	—	likely benign
rs2504569647	15:48,414,188	G/A	—	uncertain significance
rs2038683862	15:48,414,190	C/T	—	likely benign
rs147773132	15:48,414,208	A/G	—	benign
rs779060779	15:48,414,222	T/C	—	uncertain significance
rs368920722	15:48,414,228	G/A	—	uncertain significance
rs2504569730	15:48,414,232	A/G	—	uncertain significance
rs2038684395	15:48,414,234	G/T	—	likely pathogenic
rs1309288719	15:48,414,236	A/T	—	uncertain significance
rs2140703512	15:48,414,240	G/A	—	likely benign
rs1352317939	15:48,414,248	A/G	—	likely benign
rs2038684594	15:48,414,249	G/T	—	likely benign
rs16960620	15:48,416,899	A/G	intron variant	—
rs2555364	15:48,419,386	C/G	intron variant	—
rs768121323	15:48,426,443	A/G	—	likely benign
rs1343931250	15:48,426,453	A/G	—	pathogenic
rs2504592443	15:48,426,454	G/C	—	likely pathogenic
rs757041679	15:48,426,460	G/C	—	uncertain significance
rs750334231	15:48,426,474	T/A	—	uncertain significance
rs1426654	15:48,426,484	G/A	missense variant	association
rs1359277013	15:48,426,497	C/A	—	pathogenic
rs150379789	15:48,426,500	C/G	—	conflicting classifications of pathogenicity
rs749544443	15:48,426,501	G/A	—	likely benign
rs2504592960	15:48,426,503	G/T	—	uncertain significance
rs79561033	15:48,426,504	C/T	—	likely benign
rs994015407	15:48,426,546	T/C	—	likely benign
rs756059377	15:48,426,551	C/G	—	likely benign
rs2140728135	15:48,426,556	T/C	—	likely benign
rs200311950	15:48,426,558	C/T	—	likely benign
rs749419813	15:48,426,617	C/T	—	likely benign
rs2140728484	15:48,426,623	T/G	—	uncertain significance
rs373773165	15:48,426,634	G/A	—	uncertain significance
rs2038847006	15:48,426,650	G/C	—	uncertain significance
rs747579135	15:48,426,656	T/C	—	uncertain significance
rs992991572	15:48,426,659	G/A	—	uncertain significance
rs2504594788	15:48,426,688	T/C	—	uncertain significance
rs143129031	15:48,426,694	C/G	—	uncertain significance
rs762592022	15:48,426,699	T/C	—	likely benign
rs920604977	15:48,426,703	A/G	—	uncertain significance
rs879339569	15:48,426,720	T/C	—	likely benign
rs2504595103	15:48,426,732	T/C	—	likely benign
rs553496066	15:48,426,734	C/T	—	uncertain significance
rs2504595149	15:48,426,737	T/C	—	likely pathogenic
rs535986274	15:48,426,744	C/A	—	likely benign
rs2504595211	15:48,426,752	T/C	—	likely benign
rs1198554589	15:48,427,073	T/C	—	likely benign
rs2504597755	15:48,427,085	C/G	—	pathogenic
rs759318202	15:48,427,088	C/T	—	uncertain significance
rs767431083	15:48,427,089	A/C	—	likely benign
rs752641969	15:48,427,093	T/A	—	uncertain significance
rs977118193	15:48,427,094	C/G	—	pathogenic
rs374448307	15:48,427,096	T/C	—	uncertain significance
rs555994428	15:48,427,104	C/T	—	likely benign
rs1555452572	15:48,427,112	G/A	—	pathogenic
rs1555452574	15:48,427,119	T/A	—	pathogenic
rs556168142	15:48,427,124	C/T	—	uncertain significance
rs138902406	15:48,427,125	G/A	—	conflicting classifications of pathogenicity
rs2504598179	15:48,427,128	C/T	—	likely benign
rs201321591	15:48,427,135	A/G	—	uncertain significance
rs2504598358	15:48,427,149	T/C	—	likely benign
rs2504598370	15:48,427,151	T/C	—	uncertain significance
rs1335131907	15:48,427,153	G/C	—	uncertain significance
rs2140731169	15:48,427,174	G/A	—	uncertain significance

Showing 100 of 201 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.