SLC22A12

solute carrier family 22 member 12

Summary

The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Known Variants226 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs505802	11:64,357,072	T/A	—	—
rs67048806	11:64,358,100	A/G	—	likely benign
rs11602903	11:64,358,241	A/T	—	benign
rs524023	11:64,358,265	C/T	—	benign
rs9734313	11:64,358,311	C/T	—	benign
rs886048449	11:64,358,466	A/G	—	uncertain significance
rs879386992	11:64,358,473	G/A	—	uncertain significance
rs71581770	11:64,358,560	G/A	—	uncertain significance
rs138511904	11:64,358,563	C/G	—	uncertain significance
rs559946	11:64,358,605	T/C	5 prime UTR variant	benign
rs543919470	11:64,358,612	C/T	—	uncertain significance
rs191077837	11:64,358,675	G/A	—	uncertain significance
rs886048450	11:64,358,697	A/G	—	uncertain significance
rs372424252	11:64,358,719	A/C	—	uncertain significance
rs577512029	11:64,358,781	G/A	—	uncertain significance
rs72922827	11:64,358,795	T/C	—	likely benign
rs3825018	11:64,358,809	A/G	—	benign
rs886048451	11:64,358,936	C/T	—	uncertain significance
rs201365068	11:64,358,984	C/G	—	likely benign
rs2038915001	11:64,358,992	A/C	—	uncertain significance
rs749437340	11:64,359,019	A/C	—	conflicting classifications of pathogenicity
rs138704367	11:64,359,040	T/C	—	likely benign
rs1488921348	11:64,359,090	C/A	—	uncertain significance
rs762500419	11:64,359,091	G/A	—	likely benign
rs1242495900	11:64,359,093	T/C	—	uncertain significance
rs149620216	11:64,359,113	A/G	—	uncertain significance
rs755091597	11:64,359,150	C/T	—	uncertain significance
rs144313367	11:64,359,151	G/A	—	likely benign
rs148378818	11:64,359,154	C/A	—	likely benign
rs3802948	11:64,359,157	C/T	—	likely benign
rs2495476488	11:64,359,168	A/C	—	uncertain significance
rs1008748243	11:64,359,170	C/T	—	uncertain significance
rs761277987	11:64,359,201	C/T	—	uncertain significance
rs766979331	11:64,359,202	G/A	—	likely benign
rs12800450	11:64,359,221	G/A	missense variant	—
rs2495477144	11:64,359,233	C/T	—	uncertain significance
rs755253783	11:64,359,236	G/A	—	uncertain significance
rs200961759	11:64,359,248	G/T	—	uncertain significance
rs141570522	11:64,359,252	T/C	—	uncertain significance
rs777988850	11:64,359,261	C/T	—	uncertain significance
rs771497490	11:64,359,264	C/A	—	uncertain significance
rs571307205	11:64,359,265	G/A	—	uncertain significance
rs3825017	11:64,359,274	C/T	—	benign
rs3825016	11:64,359,286	C/T	—	benign
rs759293917	11:64,359,296	C/T	—	uncertain significance
rs121907896	11:64,359,297	G/A	missense variant	pathogenic
rs144328876	11:64,359,302	C/T	—	uncertain significance
rs2495477912	11:64,359,307	G/A	—	likely benign
rs2038928161	11:64,359,350	T/C	—	uncertain significance
rs371053482	11:64,359,355	C/T	—	conflicting classifications of pathogenicity
rs772733867	11:64,359,362	G/A	—	uncertain significance
rs1391005709	11:64,359,364	C/T	—	likely benign
rs776503281	11:64,359,373	G/A	—	likely benign
rs752474717	11:64,359,386	T/C	—	uncertain significance
rs763298510	11:64,359,399	G/A	—	conflicting classifications of pathogenicity
rs764360606	11:64,359,402	G/A	—	uncertain significance
rs150428327	11:64,359,419	A/G	—	uncertain significance
rs369172656	11:64,359,443	C/T	—	uncertain significance
rs12802649	11:64,359,627	C/T	—	benign
rs7110778	11:64,360,014	T/C	—	benign
rs374690336	11:64,360,236	C/T	—	likely benign
rs1233260388	11:64,360,256	C/A	—	uncertain significance
rs1043463258	11:64,360,259	C/T	—	likely benign
rs149722479	11:64,360,260	G/C	—	uncertain significance
rs2495485514	11:64,360,267	A/T	—	uncertain significance
rs11231825	11:64,360,274	T/C	synonymous variant	benign
rs148915713	11:64,360,279	T/C	—	uncertain significance
rs1449109802	11:64,360,311	G/A	—	uncertain significance
rs1285310093	11:64,360,316	T/G	—	uncertain significance
rs374684921	11:64,360,324	G/A	—	uncertain significance
rs376212424	11:64,360,334	G/A	—	likely benign
rs2135442758	11:64,360,350	G/A	—	pathogenic
rs773552593	11:64,360,362	C/A	—	likely benign
rs576076	11:64,360,623	G/A	—	benign
rs10792441	11:64,360,629	C/T	—	benign
rs537246	11:64,360,630	G/A	—	benign
rs10897518	11:64,360,705	C/T	—	benign
rs2495490076	11:64,360,872	C/T	—	likely benign
rs144325235	11:64,360,873	G/A	—	likely benign
rs2038985413	11:64,360,921	C/A	—	uncertain significance
rs200050310	11:64,360,934	G/A	—	conflicting classifications of pathogenicity
rs200340948	11:64,360,940	T/C	—	conflicting classifications of pathogenicity
rs2038986453	11:64,360,950	C/T	—	uncertain significance
rs759664239	11:64,360,957	T/G	—	uncertain significance
rs769832220	11:64,360,961	C/G	—	likely benign
rs886048452	11:64,360,973	G/C	—	uncertain significance
rs71581772	11:64,360,985	G/A	—	likely benign
rs1014455077	11:64,361,007	G/C	—	uncertain significance
rs121907893	11:64,361,020	C/G	missense variant	uncertain significance
rs980726718	11:64,361,032	G/A	—	likely pathogenic
rs75786299	11:64,361,042	G/A	—	likely benign
rs201262657	11:64,361,049	C/T	—	benign
rs200442779	11:64,361,051	C/T	—	likely benign
rs372963031	11:64,361,088	C/G	—	likely benign
rs752109186	11:64,361,089	C/G	—	likely benign
rs373881060	11:64,361,100	C/T	—	likely benign
rs145738825	11:64,361,122	C/T	—	uncertain significance
rs201136391	11:64,361,124	G/A	—	conflicting classifications of pathogenicity
rs748654094	11:64,361,127	C/T	—	uncertain significance
rs2495492904	11:64,361,131	C/T	—	uncertain significance

Showing 100 of 226 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.