SLC4A4

solute carrier family 4 member 4

Summary

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Known Variants305 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs142112148	4:72,009,115	G/C	—	—
rs4634193	4:72,009,192	T/A	—	—
rs7685921	4:72,028,545	A/G	intergenic variant	—
rs75343522	4:72,040,022	A/G	intergenic variant	—
rs1813570	4:72,085,518	G/C	—	—
rs199843215	4:72,102,362	A/G	—	likely benign
rs1031421	4:72,119,998	A/G	intron variant	—
rs4694387	4:72,120,854	C/A	—	benign
rs188304864	4:72,120,977	T/C	—	likely benign
rs1721363487	4:72,121,007	G/C	—	uncertain significance
rs41265669	4:72,121,012	G/C	—	conflicting classifications of pathogenicity
rs750078946	4:72,121,057	C/T	—	uncertain significance
rs2476057782	4:72,121,063	A/G	—	uncertain significance
rs4694388	4:72,121,163	A/G	—	benign
rs2579330	4:72,126,889	C/G	—	—
rs13133668	4:72,127,483	T/A	—	—
rs2579329	4:72,127,624	G/A	regulatory region variant	—
rs79027362	4:72,155,939	A/C	regulatory region variant	—
rs529640451	4:72,177,044	C/T	—	—
rs577782012	4:72,191,984	C/T	—	—
rs150718042	4:72,204,887	T/C	—	uncertain significance
rs1728681523	4:72,204,900	G/A	—	uncertain significance
rs1259938115	4:72,204,980	T/C	—	likely benign
rs1210167775	4:72,204,992	G/A	—	likely benign
rs777577495	4:72,204,995	C/T	—	likely benign
rs545021444	4:72,204,996	A/G	—	uncertain significance
rs769992727	4:72,205,002	C/T	—	uncertain significance
rs2476471996	4:72,205,004	T/C	—	likely benign
rs775702694	4:72,205,006	G/A	—	uncertain significance
rs200944017	4:72,205,035	T/A	—	uncertain significance
rs546158184	4:72,205,036	T/G	—	uncertain significance
rs1414207764	4:72,205,045	T/C	—	uncertain significance
rs121908858	4:72,205,050	C/T	—	pathogenic
rs144438179	4:72,205,103	A/T	—	uncertain significance
rs781030949	4:72,205,123	G/A	—	uncertain significance
rs748205618	4:72,205,162	C/T	—	uncertain significance
rs773602702	4:72,205,184	C/T	—	likely benign
rs72852163	4:72,215,583	A/G	—	benign
rs1317558056	4:72,215,615	T/C	—	likely benign
rs201092552	4:72,215,618	C/T	—	conflicting classifications of pathogenicity
rs181184794	4:72,215,624	C/T	—	conflicting classifications of pathogenicity
rs139851720	4:72,215,750	A/G	—	uncertain significance
rs149802590	4:72,215,759	C/T	—	conflicting classifications of pathogenicity
rs2476512522	4:72,215,772	C/T	—	uncertain significance
rs761315715	4:72,215,779	A/G	—	likely benign
rs767382056	4:72,215,786	G/A	—	uncertain significance
rs199790542	4:72,215,792	A/G	—	likely benign
rs145739451	4:72,222,807	G/A	—	conflicting classifications of pathogenicity
rs148508614	4:72,222,810	C/T	—	likely benign
rs146394238	4:72,222,852	C/T	—	likely benign
rs771737451	4:72,222,858	G/A	—	likely benign
rs147651604	4:72,222,861	G/A	—	conflicting classifications of pathogenicity
rs148500426	4:72,222,889	A/T	—	uncertain significance
rs1435918319	4:72,222,924	G/A	—	likely benign
rs769873680	4:72,263,294	G/A	—	uncertain significance
rs2476847495	4:72,263,296	A/G	—	uncertain significance
rs772360411	4:72,263,305	A/G	—	uncertain significance
rs753910169	4:72,263,340	T/C	—	likely benign
rs778178633	4:72,263,373	A/T	—	uncertain significance
rs116455604	4:72,263,383	T/G	—	likely benign
rs751269236	4:72,263,389	C/T	—	likely benign
rs34445073	4:72,306,223	C/A	—	benign
rs886059594	4:72,306,329	G/T	—	uncertain significance
rs372839369	4:72,306,335	G/A	—	likely benign
rs1724631430	4:72,306,357	T/A	—	uncertain significance
rs786205569	4:72,306,367	A/T	missense variant	pathogenic
rs201871554	4:72,306,384	G/A	—	uncertain significance
rs2149058291	4:72,306,390	G/C	—	uncertain significance
rs747159754	4:72,306,423	A/G	—	uncertain significance
rs776706481	4:72,306,440	A/G	—	uncertain significance
rs146008079	4:72,306,467	G/C	—	conflicting classifications of pathogenicity
rs550285672	4:72,306,501	C/T	—	conflicting classifications of pathogenicity
rs373789542	4:72,306,506	A/C	—	likely benign
rs13149784	4:72,306,560	A/T	—	benign
rs34195060	4:72,306,649	C/G	—	benign
rs72853209	4:72,313,230	A/T	—	benign
rs2477446959	4:72,313,344	T/G	—	likely benign
rs34373561	4:72,313,411	T/C	—	benign
rs121908856	4:72,313,423	A/C	missense variant	pathogenic
rs751295804	4:72,316,162	T/C	—	likely benign
rs886059595	4:72,316,184	A/C	—	uncertain significance
rs757030302	4:72,316,186	C/T	—	likely benign
rs781031046	4:72,316,187	G/A	—	uncertain significance
rs2477476418	4:72,316,195	A/C	—	likely benign
rs778804628	4:72,316,222	G/C	—	likely pathogenic
rs758762368	4:72,316,247	T/A	—	uncertain significance
rs747588886	4:72,316,264	A/C	—	uncertain significance
rs10022349	4:72,316,822	C/T	—	benign
rs1252177878	4:72,316,891	G/A	—	conflicting classifications of pathogenicity
rs886059596	4:72,316,931	A/G	—	uncertain significance
rs201149572	4:72,316,953	G/A	—	conflicting classifications of pathogenicity
rs137982286	4:72,316,956	C/G	—	conflicting classifications of pathogenicity
rs576843254	4:72,316,957	C/A	—	uncertain significance
rs370710771	4:72,316,958	A/G	—	uncertain significance
rs148635969	4:72,316,967	G/A	missense variant	benign
rs114698511	4:72,316,971	C/T	—	likely benign
rs771339934	4:72,316,993	T/C	—	conflicting classifications of pathogenicity
rs2477488415	4:72,317,007	G/T	—	uncertain significance
rs530167253	4:72,317,017	C/T	—	uncertain significance
rs142119540	4:72,317,023	C/T	—	uncertain significance

Showing 100 of 305 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.