SLC1A4

solute carrier family 1 member 4

Summary

The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]

Known Variants335 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs71424144	2:65,216,445	C/G	—	benign
rs7569840	2:65,216,487	T/C	—	benign
rs7608915	2:65,216,647	C/G	—	benign
rs7609068	2:65,216,648	G/C	—	benign
rs77796333	2:65,216,743	C/T	—	benign
rs150893731	2:65,216,777	C/T	—	uncertain significance
rs747616493	2:65,216,779	T/C	—	pathogenic
rs73934898	2:65,216,798	C/A	—	benign
rs992138247	2:65,216,813	C/T	—	likely benign
rs149636167	2:65,216,817	G/A	—	benign
rs1180484835	2:65,216,819	T/C	—	likely benign
rs375265345	2:65,216,825	G/A	—	likely benign
rs367874935	2:65,216,826	G/A	—	uncertain significance
rs1421101804	2:65,216,828	G/T	—	likely benign
rs753564384	2:65,216,837	C/A	—	likely benign
rs1572937243	2:65,216,840	G/C	—	likely benign
rs201175768	2:65,216,842	C/T	—	conflicting classifications of pathogenicity
rs751155498	2:65,216,843	C/T	—	likely benign
rs781027223	2:65,216,845	G/A	—	uncertain significance
rs965949717	2:65,216,849	T/C	—	likely benign
rs2528509438	2:65,216,852	G/C	—	likely benign
rs1672968165	2:65,216,856	A/G	—	uncertain significance
rs1266487211	2:65,216,858	C/T	—	likely benign
rs780965787	2:65,216,864	G/C	—	likely benign
rs749878288	2:65,216,865	G/A	—	uncertain significance
rs976879943	2:65,216,868	C/T	—	uncertain significance
rs2528509550	2:65,216,876	G/A	—	likely benign
rs1256474269	2:65,216,878	G/A	—	uncertain significance
rs1064512	2:65,216,886	G/C	—	benign
rs954271280	2:65,216,888	C/A	—	likely benign
rs985833775	2:65,216,890	T/C	—	uncertain significance
rs2528509645	2:65,216,897	G/T	—	likely benign
rs1370427284	2:65,216,903	A/G	—	likely benign
rs2528509702	2:65,216,907	C/T	—	likely benign
rs1462333984	2:65,216,918	C/T	—	likely benign
rs2528509765	2:65,216,921	C/T	—	likely benign
rs1007461738	2:65,216,924	G/A	—	likely benign
rs1385573774	2:65,216,930	G/T	—	likely benign
rs1016107281	2:65,216,933	G/A	—	likely benign
rs1297536702	2:65,216,934	C/T	—	likely benign
rs2528509862	2:65,216,942	C/T	—	likely benign
rs1252690288	2:65,216,945	G/T	—	likely benign
rs1482111270	2:65,216,947	G/T	—	uncertain significance
rs1243272888	2:65,216,954	C/A	—	likely benign
rs1236383033	2:65,216,959	C/T	—	likely benign
rs913627584	2:65,216,960	G/A	—	likely benign
rs1172340337	2:65,216,966	C/T	—	likely benign
rs1465764280	2:65,216,970	C/T	—	uncertain significance
rs773444647	2:65,216,976	C/G	—	uncertain significance
rs759302650	2:65,216,982	C/T	—	uncertain significance
rs572324602	2:65,216,986	C/T	—	uncertain significance
rs2528510112	2:65,216,993	C/T	—	likely benign
rs372707759	2:65,216,998	A/G	—	uncertain significance
rs2528510138	2:65,216,999	C/T	—	likely benign
rs992647902	2:65,217,000	C/T	—	likely benign
rs1672979606	2:65,217,005	C/T	—	likely benign
rs375950011	2:65,217,011	C/T	—	likely benign
rs763947992	2:65,217,014	C/A	—	likely benign
rs756743600	2:65,217,017	G/C	—	uncertain significance
rs756544988	2:65,217,047	C/A	—	likely benign
rs1037527372	2:65,217,049	T/C	—	uncertain significance
rs1433562124	2:65,217,062	C/G	—	likely benign
rs2528510330	2:65,217,068	C/T	—	likely benign
rs1325313724	2:65,217,080	C/A	—	likely benign
rs7559202	2:65,217,089	G/C	—	benign
rs748208855	2:65,217,092	C/A	—	likely benign
rs772188835	2:65,217,098	C/T	—	likely benign
rs1330107969	2:65,217,101	C/T	—	likely benign
rs1471758261	2:65,217,104	C/T	—	likely benign
rs371866577	2:65,217,107	C/T	—	likely benign
rs2528510595	2:65,217,121	G/A	—	likely pathogenic
rs1672989091	2:65,217,125	C/T	—	likely benign
rs762657236	2:65,217,128	T/C	—	likely benign
rs371427360	2:65,217,131	C/G	—	likely benign
rs1407662441	2:65,217,133	C/T	—	uncertain significance
rs1330438422	2:65,217,140	T/C	—	likely benign
rs2528510667	2:65,217,146	C/T	—	likely benign
rs1287630325	2:65,217,149	C/G	—	likely benign
rs754192460	2:65,217,164	G/A	—	likely benign
rs755320367	2:65,217,166	C/A	—	uncertain significance
rs779452951	2:65,217,168	C/T	—	uncertain significance
rs1385150933	2:65,217,173	C/G	—	likely benign
rs1033236257	2:65,217,179	C/G	—	likely benign
rs2528510808	2:65,217,181	T/A	—	pathogenic
rs1572938044	2:65,217,184	C/A	—	pathogenic
rs1672994119	2:65,217,191	C/T	—	likely benign
rs957960618	2:65,217,192	A/G	—	uncertain significance
rs1362442738	2:65,217,195	A/G	—	uncertain significance
rs1246563322	2:65,217,206	C/T	—	likely benign
rs1339727721	2:65,217,211	C/T	—	uncertain significance
rs1195024876	2:65,217,212	G/T	—	likely benign
rs776745294	2:65,217,218	C/T	—	likely benign
rs749090761	2:65,217,219	C/T	—	uncertain significance
rs1242661633	2:65,217,227	C/T	—	likely benign
rs1672997147	2:65,217,243	G/A	—	uncertain significance
rs374368836	2:65,217,251	G/A	—	likely benign
rs1452733227	2:65,217,259	C/T	—	uncertain significance
rs767576916	2:65,217,265	T/G	—	uncertain significance
rs553115234	2:65,217,277	C/G	—	uncertain significance
rs1672998948	2:65,217,281	G/A	—	likely benign

Showing 100 of 335 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.