SLC2A1

solute carrier family 2 member 1

Summary

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

Known Variants796 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1057515457	1:43,391,101	A/G	—	uncertain significance
rs189700252	1:43,391,124	C/T	—	benign
rs140560514	1:43,391,125	T/C	—	benign
rs1057515570	1:43,391,148	G/A	—	uncertain significance
rs113441673	1:43,391,375	T/G	—	uncertain significance
rs1222650517	1:43,391,391	A/T	—	uncertain significance
rs1057515458	1:43,391,431	T/C	—	uncertain significance
rs886046330	1:43,391,466	C/T	—	uncertain significance
rs55728431	1:43,391,499	C/A	—	benign
rs886046331	1:43,391,507	G/A	—	uncertain significance
rs779668330	1:43,391,563	G/T	—	uncertain significance
rs886046332	1:43,391,565	C/G	—	uncertain significance
rs886046333	1:43,391,631	A/T	—	uncertain significance
rs1426402573	1:43,391,633	A/C	—	uncertain significance
rs886046334	1:43,391,696	T/C	—	uncertain significance
rs185891628	1:43,391,741	C/T	—	benign
rs886046335	1:43,391,928	T/C	—	uncertain significance
rs779010320	1:43,391,937	T/C	—	uncertain significance
rs886046336	1:43,391,962	A/T	—	uncertain significance
rs886046337	1:43,392,061	C/A	—	uncertain significance
rs6413525	1:43,392,086	C/T	—	benign
rs1020397288	1:43,392,103	C/G	—	uncertain significance
rs886046338	1:43,392,115	C/T	—	uncertain significance
rs748209315	1:43,392,125	T/A	—	uncertain significance
rs6413524	1:43,392,141	G/A	—	benign
rs545613558	1:43,392,152	A/G	—	uncertain significance
rs886046339	1:43,392,198	C/A	—	uncertain significance
rs186437621	1:43,392,249	A/G	—	benign
rs4658	1:43,392,250	C/G	—	benign
rs543194486	1:43,392,299	C/T	—	uncertain significance
rs946103123	1:43,392,344	T/G	—	uncertain significance
rs190760291	1:43,392,366	C/T	—	benign
rs886046340	1:43,392,390	A/C	—	uncertain significance
rs144947295	1:43,392,427	G/A	—	benign
rs1643431578	1:43,392,496	G/A	—	uncertain significance
rs1643432524	1:43,392,605	C/T	—	uncertain significance
rs1266657991	1:43,392,620	C/T	—	uncertain significance
rs2229684	1:43,392,652	G/A	—	benign
rs2229683	1:43,392,690	C/T	—	likely benign
rs369282116	1:43,392,709	G/A	—	likely benign
rs1181822928	1:43,392,724	A/G	—	conflicting classifications of pathogenicity
rs1159593580	1:43,392,737	G/A	—	pathogenic
rs2124445324	1:43,392,741	G/A	—	uncertain significance
rs794726996	1:43,392,745	C/G	—	conflicting classifications of pathogenicity
rs748340730	1:43,392,746	A/G	—	uncertain significance
rs2124445354	1:43,392,747	G/T	—	uncertain significance
rs1383114037	1:43,392,751	C/T	—	likely benign
rs756304012	1:43,392,753	C/T	—	conflicting classifications of pathogenicity
rs146879902	1:43,392,754	G/A	—	likely benign
rs1643434594	1:43,392,755	G/A	—	uncertain significance
rs749067830	1:43,392,756	G/T	—	likely benign
rs2124445385	1:43,392,765	C/T	—	uncertain significance
rs770901544	1:43,392,767	C/T	—	uncertain significance
rs2124445392	1:43,392,769	T/A	—	uncertain significance
rs2524981828	1:43,392,770	T/G	—	uncertain significance
rs774241047	1:43,392,773	C/T	—	uncertain significance
rs1421901500	1:43,392,774	T/C	—	uncertain significance
rs955043564	1:43,392,779	C/A	—	uncertain significance
rs745776663	1:43,392,781	C/T	—	likely benign
rs572648977	1:43,392,783	C/A	—	conflicting classifications of pathogenicity
rs201748668	1:43,392,784	C/G	—	uncertain significance
rs13306754	1:43,392,788	C/A	—	uncertain significance
rs267607059	1:43,392,789	G/A	missense variant	pathogenic
rs138139624	1:43,392,795	C/T	—	uncertain significance
rs75852730	1:43,392,796	G/A	—	conflicting classifications of pathogenicity
rs2524982059	1:43,392,801	C/T	—	uncertain significance
rs376959589	1:43,392,802	G/A	—	likely benign
rs2124445461	1:43,392,804	T/A	—	conflicting classifications of pathogenicity
rs80359840	1:43,392,807	—	—	—
rs1047721769	1:43,392,809	T/A	—	uncertain significance
rs370257930	1:43,392,810	C/T	—	uncertain significance
rs767037143	1:43,392,811	G/A	—	likely benign
rs2524982112	1:43,392,815	G/T	—	uncertain significance
rs752143706	1:43,392,818	C/T	missense variant	pathogenic
rs13306758	1:43,392,819	G/A	—	pathogenic
rs2524982180	1:43,392,824	T/G	—	uncertain significance
rs80359829	1:43,392,825	T/A	stop gained	pathogenic
rs1469205406	1:43,392,829	C/T	—	likely benign
rs752757622	1:43,392,832	A/G	—	likely benign
rs1643435901	1:43,392,840	T/A	—	pathogenic
rs1216296247	1:43,392,843	A/T	—	uncertain significance
rs80359828	1:43,392,844	G/T	stop gained	pathogenic
rs2124445545	1:43,392,848	G/A	—	uncertain significance
rs2524982307	1:43,392,849	T/C	—	uncertain significance
rs977758531	1:43,392,850	G/A	—	likely benign
rs2124445559	1:43,392,853	G/A	—	conflicting classifications of pathogenicity
rs1643436099	1:43,392,854	A/T	—	uncertain significance
rs1643436127	1:43,392,855	T/C	—	uncertain significance
rs2124445572	1:43,392,856	G/A	—	likely benign
rs1297186036	1:43,392,859	G/A	—	likely benign
rs2124445595	1:43,392,864	G/A	—	likely benign
rs1303723497	1:43,392,871	G/C	—	likely benign
rs1406626319	1:43,392,877	A/G	—	likely benign
rs1407189135	1:43,392,888	T/C	—	uncertain significance
rs1570590528	1:43,392,891	A/C	—	likely pathogenic
rs200819771	1:43,392,894	C/T	—	conflicting classifications of pathogenicity
rs75485205	1:43,392,895	G/T	stop gained	pathogenic
rs1643436553	1:43,392,896	T/C	—	uncertain significance
rs1643436707	1:43,392,903	C/T	—	uncertain significance
rs373730619	1:43,392,904	A/G	—	likely benign

Showing 100 of 796 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.