SLC34A3

solute carrier family 34 member 3

Summary

This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]

Known Variants514 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1554782358	9:140,125,461	G/A	—	uncertain significance
rs1554782458	9:140,126,022	C/T	—	uncertain significance
rs199975477	9:140,126,150	A/T	—	likely benign
rs748739254	9:140,126,156	T/C	—	pathogenic
rs369400414	9:140,126,157	G/A	—	pathogenic
rs566626846	9:140,126,159	C/T	—	uncertain significance
rs772903522	9:140,126,172	C/T	—	likely benign
rs759744880	9:140,126,173	G/A	—	uncertain significance
rs1035636941	9:140,126,192	C/T	—	uncertain significance
rs144208635	9:140,126,193	C/A	—	likely benign
rs146559846	9:140,126,218	G/A	—	uncertain significance
rs748039656	9:140,126,222	A/G	—	likely benign
rs1465244493	9:140,126,235	T/C	—	likely benign
rs777567171	9:140,126,239	G/A	—	uncertain significance
rs375872451	9:140,126,246	G/T	—	likely benign
rs763313541	9:140,126,253	C/T	—	likely benign
rs1341775150	9:140,126,257	G/A	—	likely benign
rs112695368	9:140,126,404	C/T	—	likely benign
rs766614221	9:140,126,528	C/G	—	likely benign
rs2538797660	9:140,126,555	A/G	—	likely benign
rs1836254855	9:140,126,558	G/C	—	likely benign
rs1005865796	9:140,126,567	C/T	—	likely benign
rs757815865	9:140,126,578	T/A	—	uncertain significance
rs1016356685	9:140,126,580	C/G	—	uncertain significance
rs964624499	9:140,126,582	T/C	—	likely benign
rs2131403056	9:140,126,583	C/T	—	pathogenic
rs757247707	9:140,126,591	G/A	—	likely benign
rs2538798060	9:140,126,614	G/T	—	likely pathogenic
rs1303293162	9:140,126,617	G/A	—	uncertain significance
rs373219417	9:140,126,630	C/T	—	likely benign
rs111532084	9:140,126,736	C/T	—	likely benign
rs112848350	9:140,126,798	A/G	—	benign
rs72763302	9:140,126,924	C/G	—	benign
rs367687903	9:140,127,011	T/A	—	likely benign
rs1321161185	9:140,127,018	T/G	—	uncertain significance
rs1158991453	9:140,127,026	G/A	—	likely pathogenic
rs750340368	9:140,127,032	C/T	—	uncertain significance
rs766590721	9:140,127,034	C/A	—	likely benign
rs754789761	9:140,127,035	G/A	—	uncertain significance
rs370472204	9:140,127,040	C/G	—	likely benign
rs2538800603	9:140,127,045	G/A	—	uncertain significance
rs200584216	9:140,127,048	T/G	—	uncertain significance
rs1564416164	9:140,127,049	G/A	—	likely benign
rs780222614	9:140,127,050	C/T	—	uncertain significance
rs34372115	9:140,127,051	G/A	—	uncertain significance
rs774035480	9:140,127,053	C/T	—	uncertain significance
rs34710159	9:140,127,054	G/A	—	uncertain significance
rs140559114	9:140,127,055	C/T	—	likely benign
rs1333192790	9:140,127,058	G/A	—	likely benign
rs755237394	9:140,127,061	C/T	—	conflicting classifications of pathogenicity
rs570528948	9:140,127,062	G/A	—	uncertain significance
rs199624248	9:140,127,068	G/A	—	uncertain significance
rs387907511	9:140,127,069	T/C	—	uncertain significance
rs756241784	9:140,127,083	G/A	—	uncertain significance
rs749796750	9:140,127,091	C/T	—	likely benign
rs201273897	9:140,127,093	G/A	—	conflicting classifications of pathogenicity
rs387907509	9:140,127,096	G/T	—	uncertain significance
rs771867611	9:140,127,117	C/T	—	uncertain significance
rs145677050	9:140,127,124	C/T	—	likely benign
rs759412716	9:140,127,137	G/A	—	uncertain significance
rs1424453890	9:140,127,143	C/T	—	pathogenic
rs1231653029	9:140,127,145	G/A	—	likely benign
rs890109311	9:140,127,151	G/A	—	likely benign
rs201293634	9:140,127,157	T/C	—	pathogenic
rs2131405851	9:140,127,160	G/A	—	uncertain significance
rs756183651	9:140,127,165	G/A	—	likely benign
rs566604583	9:140,127,169	C/T	—	likely benign
rs199652389	9:140,127,175	C/T	—	likely benign
rs201109343	9:140,127,229	G/A	—	conflicting classifications of pathogenicity
rs770803386	9:140,127,235	G/C	—	likely pathogenic
rs1040164729	9:140,127,243	G/A	—	likely benign
rs1273229869	9:140,127,245	C/T	—	uncertain significance
rs768404323	9:140,127,246	C/T	—	likely benign
rs142106801	9:140,127,247	G/A	—	uncertain significance
rs200389769	9:140,127,251	A/G	—	uncertain significance
rs114286327	9:140,127,252	C/T	—	likely benign
rs570711066	9:140,127,259	A/G	—	uncertain significance
rs138683772	9:140,127,267	C/T	—	likely benign
rs371519982	9:140,127,302	T/C	—	uncertain significance
rs142873841	9:140,127,306	C/T	—	conflicting classifications of pathogenicity
rs376681513	9:140,127,307	G/A	—	uncertain significance
rs1476343192	9:140,127,312	G/A	—	likely benign
rs759826596	9:140,127,314	T/A	—	uncertain significance
rs114724831	9:140,127,322	C/G	—	uncertain significance
rs201369751	9:140,127,325	G/A	—	uncertain significance
rs1164875529	9:140,127,330	G/A	—	likely benign
rs1373464667	9:140,127,341	C/T	—	conflicting classifications of pathogenicity
rs148026048	9:140,127,342	G/A	—	likely benign
rs141734934	9:140,127,344	C/T	—	conflicting classifications of pathogenicity
rs748166039	9:140,127,354	C/T	—	uncertain significance
rs746020074	9:140,127,360	C/T	—	likely benign
rs376378040	9:140,127,367	G/A	—	uncertain significance
rs387907512	9:140,127,370	G/A	—	uncertain significance
rs200186549	9:140,127,379	C/T	—	uncertain significance
rs150841256	9:140,127,380	G/A	—	pathogenic
rs768893184	9:140,127,384	G/A	—	conflicting classifications of pathogenicity
rs774695234	9:140,127,386	G/A	—	likely benign
rs545767491	9:140,127,442	C/A	—	conflicting classifications of pathogenicity
rs562371503	9:140,127,446	C/T	—	likely benign
rs377306924	9:140,127,447	C/G	—	conflicting classifications of pathogenicity

Showing 100 of 514 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.