SLC24A4

solute carrier family 24 member 4

Summary

This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023]

Known Variants117 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12883151	14:92,790,077	A/G	—	benign
rs376782860	14:92,790,179	C/G	—	uncertain significance
rs1884943480	14:92,790,187	G/T	—	uncertain significance
rs780908617	14:92,790,194	T/C	—	uncertain significance
rs149248445	14:92,790,282	G/T	—	benign
rs4144268	14:92,790,513	G/T	—	benign
rs2014123	14:92,791,891	C/T	—	benign
rs941646	14:92,792,255	G/A	—	benign
rs2545348132	14:92,792,289	G/A	—	uncertain significance
rs150573991	14:92,792,313	A/G	—	benign
rs941645	14:92,792,432	T/C	—	benign
rs79363863	14:92,792,604	C/T	—	benign
rs118164045	14:92,792,639	C/T	—	benign
rs2402130	14:92,801,203	G/C	—	—
rs35778179	14:92,835,973	C/T	intron variant	—
rs1884679	14:92,843,562	T/A	intron variant	—
rs1884677	14:92,843,828	G/A	intron variant	—
rs12435905	14:92,849,447	A/G	intron variant	—
rs12435920	14:92,849,466	A/C	—	—
rs146453956	14:92,885,336	G/A	intron variant	—
rs77425477	14:92,900,257	G/A	—	benign
rs376764844	14:92,900,340	G/A	—	likely benign
rs7151618	14:92,900,505	T/A	—	benign
rs781106291	14:92,905,694	T/C	—	uncertain significance
rs146323738	14:92,905,714	C/T	—	likely benign
rs4900122	14:92,905,817	A/G	—	benign
rs759841536	14:92,908,466	A/G	—	uncertain significance
rs587777537	14:92,908,476	C/T	missense variant	pathogenic
rs764214827	14:92,908,481	G/A	—	uncertain significance
rs373346104	14:92,908,492	G/A	—	likely benign
rs377062821	14:92,908,507	G/A	—	likely benign
rs75348968	14:92,908,512	T/C	—	uncertain significance
rs941650	14:92,909,073	C/T	—	benign
rs551321592	14:92,909,080	G/A	—	uncertain significance
rs1302382144	14:92,909,121	C/T	—	likely benign
rs78214854	14:92,909,142	C/T	—	benign
rs145888814	14:92,909,159	A/G	—	uncertain significance
rs12588868	14:92,909,309	T/C	—	benign
rs61977293	14:92,909,552	C/T	—	benign
rs747443233	14:92,909,758	G/A	—	likely benign
rs141131742	14:92,909,774	C/T	—	pathogenic
rs778560587	14:92,909,808	T/C	—	uncertain significance
rs146818489	14:92,909,816	G/A	—	likely benign
rs17128308	14:92,911,351	A/G	—	benign
rs61977295	14:92,911,410	C/G	—	benign
rs774578690	14:92,911,679	A/G	—	uncertain significance
rs1466725527	14:92,913,733	C/T	—	likely benign
rs149544741	14:92,915,440	T/C	—	uncertain significance
rs540053008	14:92,915,458	A/G	—	likely benign
rs779028101	14:92,915,516	A/G	—	likely benign
rs141240818	14:92,915,542	G/A	—	likely benign
rs34250553	14:92,920,037	C/T	—	benign
rs139572787	14:92,920,262	A/G	—	likely benign
rs368598284	14:92,920,372	A/G	—	uncertain significance
rs587777535	14:92,920,378	C/T	stop gained	pathogenic
rs7158400	14:92,922,713	T/C	—	benign
rs145847451	14:92,922,774	T/C	—	likely benign
rs145503578	14:92,922,810	C/T	—	likely benign
rs780168516	14:92,922,817	A/G	—	uncertain significance
rs376229546	14:92,922,826	G/A	—	uncertain significance
rs143075344	14:92,922,831	T/A	—	conflicting classifications of pathogenicity
rs1595311964	14:92,922,876	G/A	—	likely benign
rs146952483	14:92,922,881	C/T	—	uncertain significance
rs754076513	14:92,922,885	G/A	—	likely benign
rs1595312054	14:92,922,889	C/T	—	pathogenic
rs150939533	14:92,922,894	A/G	—	likely benign
rs140679866	14:92,922,898	C/G	—	uncertain significance
rs754964950	14:92,922,899	C/T	—	uncertain significance
rs372011438	14:92,922,915	G/A	—	likely benign
rs138624260	14:92,922,946	G/A	—	likely benign
rs34180624	14:92,923,020	C/T	—	benign
rs12878418	14:92,923,032	G/A	—	benign
rs10498633	14:92,926,952	G/T	intron variant	—
rs8019291	14:92,931,164	G/C	—	—
rs12590273	14:92,934,120	T/C	intron variant	—
rs4347561	14:92,946,783	G/T	—	—
rs140166807	14:92,948,746	G/C	—	benign
rs1203663794	14:92,949,026	G/T	—	uncertain significance
rs1418548480	14:92,949,055	C/T	—	likely benign
rs374384308	14:92,949,097	C/G	—	uncertain significance
rs200218380	14:92,949,123	T/A	—	uncertain significance
rs2503504190	14:92,949,174	A/C	—	uncertain significance
rs2503504242	14:92,949,185	T/G	—	uncertain significance
rs2503504255	14:92,949,186	G/T	—	uncertain significance
rs75541565	14:92,950,061	C/A	—	—
rs7156885	14:92,952,680	C/T	—	benign
rs4904941	14:92,952,838	A/C	—	benign
rs61977319	14:92,952,958	G/T	—	benign
rs199580422	14:92,953,049	A/T	—	uncertain significance
rs756705575	14:92,953,081	A/G	—	likely benign
rs587777536	14:92,953,082	A/T	missense variant	pathogenic
rs142889151	14:92,953,116	C/T	—	benign
rs200453686	14:92,953,131	A/G	—	benign
rs376859420	14:92,958,000	C/G	—	likely benign
rs758612286	14:92,958,049	C/T	—	likely benign
rs200401376	14:92,958,099	T/C	—	uncertain significance
rs2402168	14:92,958,398	A/G	—	benign
rs45587635	14:92,958,522	C/A	—	benign
rs141392743	14:92,958,539	G/T	—	benign
rs750676867	14:92,958,551	C/T	—	likely benign

Showing 100 of 117 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.