SLC5A1

solute carrier family 5 member 1

Summary

This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Known Variants383 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2899172	22:32,438,941	T/C	—	benign
rs1349973469	22:32,439,031	G/A	—	uncertain significance
rs142248518	22:32,439,099	C/T	—	benign
rs886057399	22:32,439,149	C/T	—	uncertain significance
rs200410750	22:32,439,209	C/T	—	uncertain significance
rs199663392	22:32,439,218	G/A	—	uncertain significance
rs200961861	22:32,439,233	G/A	—	likely benign
rs886057400	22:32,439,246	G/A	—	uncertain significance
rs33973317	22:32,439,274	T/C	—	benign
rs1428682219	22:32,439,284	T/C	—	uncertain significance
rs750528703	22:32,439,298	C/T	—	likely benign
rs372066068	22:32,439,301	C/T	—	likely benign
rs202189110	22:32,439,302	G/A	—	uncertain significance
rs150288967	22:32,439,303	C/T	—	conflicting classifications of pathogenicity
rs148720069	22:32,439,304	G/A	—	conflicting classifications of pathogenicity
rs2149481647	22:32,439,309	C/T	—	uncertain significance
rs33915717	22:32,439,311	C/T	—	uncertain significance
rs142249046	22:32,439,312	G/A	—	uncertain significance
rs33951240	22:32,439,318	T/C	—	benign
rs2517633746	22:32,439,321	A/G	—	uncertain significance
rs2517633751	22:32,439,322	G/A	—	likely benign
rs201800716	22:32,439,338	C/T	—	uncertain significance
rs201331252	22:32,439,343	T/C	—	likely benign
rs121912668	22:32,439,350	G/A	missense variant	pathogenic
rs121912669	22:32,439,351	A/G	missense variant	uncertain significance
rs201689857	22:32,439,357	C/T	—	uncertain significance
rs33918436	22:32,439,365	G/A	—	conflicting classifications of pathogenicity
rs139760182	22:32,439,369	T/C	—	uncertain significance
rs2517633854	22:32,439,370	C/T	—	likely benign
rs2149481673	22:32,439,382	A/G	—	likely benign
rs770382788	22:32,439,389	G/A	—	uncertain significance
rs776245001	22:32,439,391	C/T	—	likely benign
rs145265137	22:32,439,394	C/T	—	likely benign
rs1380051986	22:32,439,412	C/T	—	likely benign
rs200959236	22:32,439,413	G/A	—	likely benign
rs927895146	22:32,439,415	G/T	—	likely benign
rs377751650	22:32,439,417	T/G	—	likely benign
rs201887751	22:32,439,419	T/G	—	likely benign
rs148506365	22:32,445,097	A/T	intron variant	—
rs267606230	22:32,445,929	G/A	—	likely pathogenic
rs17683011	22:32,445,946	A/G	missense variant	benign
rs2149483365	22:32,445,947	T/C	—	likely benign
rs767673239	22:32,445,948	C/T	—	uncertain significance
rs773674977	22:32,445,949	G/A	—	uncertain significance
rs1334755356	22:32,445,952	G/A	—	uncertain significance
rs201673887	22:32,445,956	T/C	—	likely benign
rs2093943146	22:32,445,958	T/C	—	uncertain significance
rs766972416	22:32,445,965	C/T	—	likely benign
rs1277952619	22:32,445,976	C/T	—	uncertain significance
rs202166715	22:32,445,981	C/T	—	pathogenic
rs200352654	22:32,445,982	G/A	—	uncertain significance
rs201383366	22:32,445,988	T/C	—	uncertain significance
rs1460424935	22:32,445,990	G/A	—	uncertain significance
rs1203557575	22:32,445,994	G/A	—	likely pathogenic
rs199683554	22:32,446,000	C/T	—	uncertain significance
rs201259641	22:32,446,020	G/A	—	likely benign
rs17745316	22:32,446,805	G/A	regulatory region variant	—
rs9609421	22:32,461,497	A/G	intron variant	—
rs733907	22:32,462,564	T/C	intron variant	—
rs2517648777	22:32,462,902	A/C	—	likely benign
rs771140849	22:32,462,906	T/C	—	likely benign
rs200261297	22:32,462,909	T/A	—	conflicting classifications of pathogenicity
rs376504656	22:32,462,913	C/T	—	likely benign
rs199783226	22:32,462,914	G/A	—	likely benign
rs2149487752	22:32,462,930	C/T	—	likely benign
rs762929535	22:32,462,932	C/T	—	uncertain significance
rs2517648837	22:32,462,945	T/C	—	likely benign
rs2517648865	22:32,462,960	C/T	—	likely benign
rs1387609815	22:32,462,978	C/T	—	likely benign
rs1172889016	22:32,462,979	G/A	—	uncertain significance
rs2149487772	22:32,462,986	G/C	—	uncertain significance
rs2517648909	22:32,462,988	G/A	—	uncertain significance
rs2517648910	22:32,462,991	G/A	—	uncertain significance
rs2093974548	22:32,463,021	T/G	—	uncertain significance
rs200776237	22:32,463,029	G/A	—	uncertain significance
rs2149487784	22:32,463,043	C/A	—	likely benign
rs200051594	22:32,463,044	C/A	—	likely benign
rs1263267921	22:32,463,045	A/G	—	likely benign
rs135110	22:32,463,875	A/G	—	benign
rs2517649710	22:32,463,964	T/C	—	uncertain significance
rs1260871547	22:32,463,966	G/T	—	uncertain significance
rs933592281	22:32,463,971	T/G	—	likely benign
rs1424187026	22:32,463,975	C/T	—	likely benign
rs2517649734	22:32,463,977	G/A	—	likely benign
rs777391124	22:32,463,985	T/G	—	uncertain significance
rs780554779	22:32,463,988	T/A	—	uncertain significance
rs2517649764	22:32,463,998	C/T	—	likely benign
rs1569304938	22:32,464,010	T/C	—	likely benign
rs200270930	22:32,464,013	G/A	—	uncertain significance
rs1443237221	22:32,464,021	T/G	—	likely benign
rs774340707	22:32,464,028	T/G	—	likely benign
rs201398293	22:32,464,470	G/A	—	likely benign
rs199690019	22:32,464,474	C/T	—	benign
rs749639473	22:32,464,475	C/T	—	likely benign
rs373203939	22:32,464,514	G/A	—	uncertain significance
rs748242943	22:32,464,528	C/G	—	uncertain significance
rs772220977	22:32,464,529	G/A	—	uncertain significance
rs570743274	22:32,464,530	G/A	—	likely benign
rs773589957	22:32,464,533	C/G	—	uncertain significance
rs1439640016	22:32,464,539	C/T	—	likely benign

Showing 100 of 383 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.