SLC11A2

solute carrier family 11 member 2

Summary

This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

Known Variants133 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1056391806	12:51,350,092	T/C	—	—
rs12304921	12:51,357,542	A/G	intron variant	—
rs575495762	12:51,379,776	T/A	—	uncertain significance
rs867212578	12:51,379,819	C/A	—	uncertain significance
rs72561485	12:51,380,159	T/C	—	uncertain significance
rs886049558	12:51,380,206	G/C	—	uncertain significance
rs149411	12:51,380,232	A/G	—	benign
rs750648046	12:51,380,313	C/T	—	uncertain significance
rs766628921	12:51,380,369	G/A	—	uncertain significance
rs557225035	12:51,380,493	A/G	—	uncertain significance
rs886049559	12:51,380,509	G/A	—	uncertain significance
rs777649881	12:51,380,549	C/A	—	uncertain significance
rs116731209	12:51,380,622	C/A	—	benign
rs946003076	12:51,380,664	G/A	—	uncertain significance
rs1235162595	12:51,380,741	A/G	—	uncertain significance
rs573581505	12:51,380,748	T/C	—	uncertain significance
rs11169654	12:51,380,835	C/T	—	benign
rs60725885	12:51,380,847	C/T	—	benign
rs17125172	12:51,380,893	T/G	—	benign
rs41398049	12:51,381,050	T/C	—	uncertain significance
rs767436028	12:51,381,051	G/A	—	uncertain significance
rs150909	12:51,381,077	C/T	—	benign
rs886049560	12:51,381,101	T/C	—	uncertain significance
rs886049561	12:51,381,122	G/T	—	uncertain significance
rs886049562	12:51,381,123	C/T	—	uncertain significance
rs886049563	12:51,381,138	T/C	—	uncertain significance
rs73297974	12:51,381,236	T/G	—	benign
rs79206015	12:51,381,319	C/T	—	benign
rs571129669	12:51,381,392	C/T	—	uncertain significance
rs193030246	12:51,381,562	C/T	—	likely benign
rs886049564	12:51,381,688	C/T	—	uncertain significance
rs765348165	12:51,381,693	C/T	—	uncertain significance
rs224446	12:51,381,718	C/T	—	benign
rs2285230	12:51,381,750	T/C	3 prime UTR variant	benign
rs1940770079	12:51,381,813	C/T	—	uncertain significance
rs146016854	12:51,381,955	T/C	—	likely benign
rs886049565	12:51,382,076	T/C	—	uncertain significance
rs201382454	12:51,382,097	C/T	—	uncertain significance
rs369107866	12:51,382,116	C/T	—	uncertain significance
rs200378439	12:51,382,124	C/T	—	uncertain significance
rs550969378	12:51,382,131	C/T	—	uncertain significance
rs2498928064	12:51,382,133	T/G	—	uncertain significance
rs1469622244	12:51,382,139	G/A	—	uncertain significance
rs759359452	12:51,382,152	T/C	—	uncertain significance
rs369530092	12:51,382,166	G/T	—	uncertain significance
rs2498929243	12:51,382,187	G/A	—	uncertain significance
rs760783598	12:51,382,198	T/G	—	uncertain significance
rs761505350	12:51,382,210	T/C	—	uncertain significance
rs1940818391	12:51,382,225	G/C	—	uncertain significance
rs758777328	12:51,382,230	A/G	—	likely benign
rs161044	12:51,382,232	T/C	—	benign
rs2498958773	12:51,384,604	C/T	—	uncertain significance
rs1229345464	12:51,384,642	T/C	—	uncertain significance
rs17216086	12:51,384,655	G/A	—	benign
rs146202526	12:51,384,656	G/T	—	likely benign
rs139057918	12:51,384,728	G/A	—	conflicting classifications of pathogenicity
rs11834061	12:51,384,749	A/T	—	likely benign
rs886049566	12:51,385,374	A/T	—	uncertain significance
rs376433484	12:51,385,412	C/T	—	uncertain significance
rs367647083	12:51,385,420	C/T	—	likely benign
rs189993499	12:51,385,465	A/G	—	likely benign
rs774796819	12:51,385,987	G/A	—	conflicting classifications of pathogenicity
rs775540300	12:51,385,990	C/T	—	uncertain significance
rs144863268	12:51,386,017	G/T	—	likely benign
rs148582995	12:51,386,062	T/C	—	uncertain significance
rs1048230	12:51,386,066	A/G	synonymous variant	benign
rs121918366	12:51,386,074	G/C	missense variant	pathogenic
rs761054843	12:51,386,114	C/T	—	uncertain significance
rs121918365	12:51,386,593	C/G	missense variant	pathogenic
rs2498993482	12:51,386,595	C/T	—	uncertain significance
rs2498995127	12:51,386,678	G/A	—	uncertain significance
rs376365060	12:51,388,355	G/A	—	uncertain significance
rs370750890	12:51,388,372	G/C	—	conflicting classifications of pathogenicity
rs781745809	12:51,388,374	G/A	—	uncertain significance
rs375554406	12:51,388,394	G/C	—	likely benign
rs376046838	12:51,389,409	C/T	—	uncertain significance
rs769742722	12:51,389,470	T/C	—	uncertain significance
rs762100462	12:51,389,481	G/A	—	uncertain significance
rs17216051	12:51,389,509	A/G	—	benign
rs201248826	12:51,389,573	A/G	—	likely benign
rs754854640	12:51,390,603	G/C	—	conflicting classifications of pathogenicity
rs774056905	12:51,390,653	C/T	—	uncertain significance
rs1200385494	12:51,390,684	G/A	—	likely benign
rs370116016	12:51,390,713	T/C	—	uncertain significance
rs1592344306	12:51,390,716	C/T	—	uncertain significance
rs2499150283	12:51,392,922	T/C	—	pathogenic
rs886049567	12:51,392,985	G/A	—	uncertain significance
rs121918367	12:51,392,997	C/A	missense variant	pathogenic
rs115874705	12:51,393,007	C/T	—	benign
rs2499153331	12:51,393,018	C/T	—	uncertain significance
rs224454	12:51,393,116	C/T	—	benign
rs2499157978	12:51,393,157	G/A	—	uncertain significance
rs1256809732	12:51,394,097	T/G	—	likely benign
rs373590039	12:51,394,109	G/A	—	uncertain significance
rs886049568	12:51,394,118	T/C	—	uncertain significance
rs145155499	12:51,394,128	T/C	—	conflicting classifications of pathogenicity
rs774857007	12:51,394,196	G/C	—	uncertain significance
rs368158015	12:51,398,584	C/T	—	uncertain significance
rs577960009	12:51,398,585	G/A	—	uncertain significance
rs224589	12:51,399,050	T/G	intron variant	benign

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.