SLC19A1

solute carrier family 19 member 1

Summary

The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

Known Variants166 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs557888995	21:46,918,394	G/A	—	likely benign
rs753824908	21:46,924,345	C/T	stop gained	pathogenic
rs113182963	21:46,924,997	C/T	regulatory region variant	—
rs1057518766	21:46,925,286	G/A	missense variant	pathogenic
rs1050351	21:46,929,467	G/A	synonymous variant	benign
rs1057518802	21:46,929,468	C/T	stop gained	pathogenic
rs398122391	21:46,930,005	—	—	pathogenic
rs56335679	21:46,930,992	A/C	regulatory region variant	likely benign
rs55690336	21:46,930,993	C/A	regulatory region variant	likely benign
rs12483377	21:46,931,109	G/A	missense variant	likely benign
rs2236484	21:46,931,684	G/A	regulatory region variant	—
rs1085307935	21:46,932,139	G/T	missense variant	pathogenic
rs7499	21:46,932,328	G/A	regulatory region variant	benign
rs1051298	21:46,934,826	G/A	downstream gene variant	—
rs1051296	21:46,934,861	A/C	downstream gene variant	—
rs975257559	21:46,935,034	C/G	—	likely benign
rs541428963	21:46,935,584	A/G	—	benign
rs144916610	21:46,935,595	C/T	—	uncertain significance
rs774020530	21:46,935,598	C/T	—	uncertain significance
rs140055382	21:46,935,641	A/G	—	likely benign
rs2037885693	21:46,935,643	G/A	—	uncertain significance
rs376071998	21:46,935,697	C/T	—	uncertain significance
rs770080088	21:46,935,698	G/A	—	likely benign
rs201271808	21:46,935,715	G/A	—	uncertain significance
rs1449063499	21:46,935,733	G/A	—	uncertain significance
rs757310341	21:46,935,761	C/T	—	likely benign
rs145226289	21:46,935,762	G/A	—	uncertain significance
rs2517969093	21:46,935,775	G/A	—	likely benign
rs58836581	21:46,935,784	C/T	—	likely benign
rs760337198	21:46,935,789	T/C	—	uncertain significance
rs201466856	21:46,935,812	C/T	—	likely benign
rs201529810	21:46,935,817	C/A	—	likely benign
rs557998866	21:46,935,834	T/C	—	uncertain significance
rs780587368	21:46,935,846	G/A	—	uncertain significance
rs2037903375	21:46,935,847	G/A	—	uncertain significance
rs749765137	21:46,935,848	C/T	—	likely benign
rs769040907	21:46,935,849	G/A	—	uncertain significance
rs779290190	21:46,935,851	G/A	—	likely benign
rs2517972563	21:46,935,852	C/T	—	uncertain significance
rs746644091	21:46,935,875	G/A	—	likely benign
rs2517974182	21:46,935,900	G/A	—	uncertain significance
rs750592318	21:46,935,935	G/T	—	likely benign
rs7278825	21:46,935,942	G/A	—	benign
rs560827689	21:46,935,943	C/A	—	uncertain significance
rs748603200	21:46,935,945	G/A	—	uncertain significance
rs60669093	21:46,935,956	C/T	—	likely benign
rs546839730	21:46,935,969	C/T	—	likely benign
rs201021365	21:46,935,970	G/A	—	uncertain significance
rs59841046	21:46,935,981	C/T	—	uncertain significance
rs773517804	21:46,935,982	G/A	—	uncertain significance
rs1331191836	21:46,935,992	C/A	—	likely benign
rs960393925	21:46,936,016	G/A	—	likely benign
rs745527688	21:46,936,039	C/A	—	uncertain significance
rs1888530	21:46,936,423	C/T	downstream gene variant	—
rs3788189	21:46,936,583	T/G	downstream gene variant	—
rs12482346	21:46,937,627	C/T	regulatory region variant	—
rs2838956	21:46,945,024	A/C	—	—
rs2146291558	21:46,945,726	C/G	—	uncertain significance
rs201019287	21:46,945,738	C/T	—	uncertain significance
rs151246436	21:46,945,744	G/A	—	uncertain significance
rs759627312	21:46,945,748	G/A	—	uncertain significance
rs1001857980	21:46,945,758	C/T	—	likely benign
rs374164733	21:46,945,759	C/T	—	uncertain significance
rs752092346	21:46,945,764	G/A	—	likely benign
rs138047632	21:46,945,774	A/G	—	benign
rs57725551	21:46,945,782	G/T	—	benign
rs150116000	21:46,945,806	A/G	—	likely benign
rs138417012	21:46,945,812	C/T	—	likely benign
rs149270420	21:46,945,824	G/A	—	likely benign
rs139437559	21:46,945,859	A/T	—	uncertain significance
rs1280585885	21:46,945,867	T/C	—	uncertain significance
rs2838958	21:46,948,567	G/A	intron variant	—
rs542422691	21:46,950,668	C/A	—	likely benign
rs61338739	21:46,950,676	G/T	—	likely benign
rs747497395	21:46,950,690	A/T	—	uncertain significance
rs2077848467	21:46,950,696	A/G	—	uncertain significance
rs200398944	21:46,950,716	G/A	—	likely benign
rs980434503	21:46,950,719	G/A	—	likely benign
rs766096189	21:46,950,727	C/T	—	uncertain significance
rs2077851310	21:46,950,732	G/A	—	uncertain significance
rs1602802914	21:46,950,734	C/T	—	likely benign
rs781535674	21:46,950,759	G/A	—	uncertain significance
rs1158032004	21:46,950,768	G/A	—	uncertain significance
rs2077855956	21:46,950,793	C/T	—	pathogenic
rs142899279	21:46,950,811	C/A	—	uncertain significance
rs759432126	21:46,950,812	G/A	—	likely benign
rs1355489726	21:46,950,816	G/A	—	uncertain significance
rs59638403	21:46,950,823	G/A	—	benign
rs1263976097	21:46,950,829	T/G	—	uncertain significance
rs371576845	21:46,950,840	G/A	—	likely benign
rs79091853	21:46,950,863	C/T	—	benign
rs200647386	21:46,950,864	G/A	—	uncertain significance
rs776729245	21:46,950,869	G/A	—	likely benign
rs762641228	21:46,950,890	G/T	—	likely benign
rs56785402	21:46,950,899	G/A	—	benign
rs2517305662	21:46,951,284	G/A	—	likely benign
rs774263744	21:46,951,286	G/A	—	likely benign
rs1302463366	21:46,951,316	G/A	—	likely benign
rs373685390	21:46,951,326	G/A	—	uncertain significance
rs745419707	21:46,951,334	G/A	—	likely benign

Showing 100 of 166 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.