SLC3A1

solute carrier family 3 member 1

Summary

This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Known Variants300 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs144707481	2:44,502,315	T/G	—	benign
rs1671316353	2:44,502,593	T/G	—	uncertain significance
rs886056066	2:44,502,610	C/T	—	uncertain significance
rs372603963	2:44,502,659	C/T	—	uncertain significance
rs555353688	2:44,502,675	A/G	—	uncertain significance
rs138311995	2:44,502,682	A/G	—	uncertain significance
rs923446924	2:44,502,687	A/G	—	uncertain significance
rs147004629	2:44,502,691	G/A	—	uncertain significance
rs376615998	2:44,502,698	A/C	—	uncertain significance
rs769462475	2:44,502,724	G/C	—	uncertain significance
rs1313555896	2:44,502,737	C/T	—	likely benign
rs149507807	2:44,502,740	C/T	—	conflicting classifications of pathogenicity
rs750919380	2:44,502,741	G/A	—	uncertain significance
rs748553507	2:44,502,774	A/G	—	uncertain significance
rs3738985	2:44,502,788	C/A	—	benign
rs1671323312	2:44,502,798	G/C	—	uncertain significance
rs760804638	2:44,502,815	C/T	—	likely benign
rs1408497251	2:44,502,822	G/A	—	conflicting classifications of pathogenicity
rs2466668006	2:44,502,835	C/A	—	uncertain significance
rs886056067	2:44,502,840	G/A	—	uncertain significance
rs1006185366	2:44,502,844	C/T	—	uncertain significance
rs748832562	2:44,502,857	C/T	—	likely benign
rs778587102	2:44,502,858	G/A	—	uncertain significance
rs1030612485	2:44,502,868	A/G	—	uncertain significance
rs771831659	2:44,502,869	T/C	—	likely benign
rs201799081	2:44,502,872	G/A	—	likely benign
rs771021431	2:44,502,875	G/T	—	conflicting classifications of pathogenicity
rs146630359	2:44,502,905	T/A	—	conflicting classifications of pathogenicity
rs149813423	2:44,502,915	C/T	—	uncertain significance
rs201617723	2:44,502,916	G/T	—	conflicting classifications of pathogenicity
rs148946634	2:44,502,921	C/T	—	uncertain significance
rs777389522	2:44,502,930	C/T	—	uncertain significance
rs770970062	2:44,502,938	C/T	—	likely benign
rs1453871309	2:44,502,940	T/C	—	pathogenic
rs1671329757	2:44,502,950	C/T	—	likely benign
rs147701210	2:44,502,964	T/C	—	uncertain significance
rs750996109	2:44,502,966	C/A	—	uncertain significance
rs549888282	2:44,502,972	C/T	—	uncertain significance
rs115030299	2:44,502,974	C/T	—	conflicting classifications of pathogenicity
rs752281627	2:44,502,977	C/T	—	uncertain significance
rs200093674	2:44,502,987	A/G	—	uncertain significance
rs745740070	2:44,502,992	C/T	—	likely benign
rs138597262	2:44,502,996	A/G	—	uncertain significance
rs1480884506	2:44,503,001	C/G	—	likely benign
rs2466668761	2:44,503,006	C/T	—	uncertain significance
rs369145783	2:44,503,008	C/T	—	uncertain significance
rs1671332120	2:44,503,013	G/A	—	likely benign
rs146205877	2:44,503,034	G/A	—	likely benign
rs1671332631	2:44,503,037	G/A	—	likely benign
rs1269139353	2:44,503,042	T/C	—	uncertain significance
rs148787131	2:44,503,069	A/G	—	uncertain significance
rs150870922	2:44,503,091	C/T	—	conflicting classifications of pathogenicity
rs768848958	2:44,503,092	G/A	—	conflicting classifications of pathogenicity
rs1558450604	2:44,503,106	T/G	—	likely pathogenic
rs12473699	2:44,507,673	A/G	—	benign
rs772258572	2:44,507,844	T/G	—	likely benign
rs1249821286	2:44,507,860	C/T	—	likely pathogenic
rs778027083	2:44,507,862	A/T	—	uncertain significance
rs747368911	2:44,507,863	G/C	—	uncertain significance
rs778354350	2:44,507,876	A/G	—	pathogenic
rs766140035	2:44,507,884	G/T	—	uncertain significance
rs886056068	2:44,507,902	G/C	—	uncertain significance
rs917960192	2:44,507,921	A/G	—	uncertain significance
rs200001778	2:44,507,927	C/A	—	likely pathogenic
rs757439376	2:44,507,932	C/G	—	uncertain significance
rs2466680287	2:44,507,955	T/A	—	likely benign
rs1671479591	2:44,507,957	A/C	—	uncertain significance
rs121912694	2:44,507,966	G/A	missense variant	pathogenic
rs549909989	2:44,507,968	G/A	—	likely benign
rs569856127	2:44,507,978	C/T	—	uncertain significance
rs140317484	2:44,507,990	C/T	—	conflicting classifications of pathogenicity
rs143195837	2:44,507,991	G/C	—	likely benign
rs772817732	2:44,507,993	T/C	—	uncertain significance
rs534054965	2:44,507,996	A/G	—	uncertain significance
rs1318112597	2:44,508,021	C/A	—	uncertain significance
rs370095960	2:44,508,048	A/G	—	likely benign
rs10427398	2:44,508,095	C/T	—	likely benign
rs10427326	2:44,508,181	C/T	—	likely benign
rs6747853	2:44,508,193	T/G	—	benign
rs10427327	2:44,508,203	C/G	—	likely benign
rs2466681798	2:44,508,527	T/C	—	likely benign
rs2466681808	2:44,508,535	T/G	—	pathogenic
rs775231844	2:44,508,543	G/A	—	uncertain significance
rs369603431	2:44,508,553	C/G	—	pathogenic
rs369641941	2:44,508,562	C/T	—	pathogenic
rs1015791887	2:44,508,565	G/C	—	uncertain significance
rs542026439	2:44,508,585	C/T	—	pathogenic
rs140331858	2:44,508,587	A/G	—	benign
rs753086483	2:44,508,588	T/G	—	uncertain significance
rs142469446	2:44,508,595	G/A	—	uncertain significance
rs758636942	2:44,508,600	C/T	—	uncertain significance
rs138395881	2:44,508,601	G/A	—	uncertain significance
rs2466682042	2:44,508,618	G/C	—	uncertain significance
rs1323168656	2:44,508,639	T/C	—	uncertain significance
rs2466682091	2:44,508,640	G/C	—	uncertain significance
rs1671499718	2:44,508,667	C/T	—	uncertain significance
rs1572790723	2:44,508,677	C/A	—	uncertain significance
rs2466682288	2:44,508,680	G/C	—	conflicting classifications of pathogenicity
rs541948214	2:44,508,695	G/A	—	benign
rs11124986	2:44,508,835	A/G	—	benign

Showing 100 of 300 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.