SLC16A1

solute carrier family 16 member 1

Summary

The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]

Known Variants242 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9429505	1:113,454,571	A/G	—	benign
rs11811205	1:113,454,637	C/G	—	likely benign
rs750135904	1:113,454,712	T/C	—	uncertain significance
rs761298128	1:113,454,859	T/C	—	uncertain significance
rs140456426	1:113,454,889	T/C	—	likely benign
rs7169	1:113,455,099	G/A	—	benign
rs886045059	1:113,455,201	C/G	—	uncertain significance
rs184445532	1:113,455,232	A/C	—	likely benign
rs778106916	1:113,455,379	C/T	—	uncertain significance
rs886045062	1:113,455,441	C/A	—	uncertain significance
rs1648368024	1:113,455,442	A/G	—	uncertain significance
rs886045063	1:113,455,449	C/A	—	uncertain significance
rs886045064	1:113,455,462	C/T	—	uncertain significance
rs1190989254	1:113,455,469	A/C	—	uncertain significance
rs774371594	1:113,455,495	A/C	—	uncertain significance
rs543171131	1:113,455,565	C/T	—	uncertain significance
rs867810008	1:113,455,567	C/T	—	uncertain significance
rs556305447	1:113,455,698	C/T	—	uncertain significance
rs570060559	1:113,455,774	A/C	—	uncertain significance
rs911644501	1:113,455,856	G/T	—	uncertain significance
rs540946001	1:113,455,884	G/A	—	uncertain significance
rs527658261	1:113,455,910	A/G	—	uncertain significance
rs754537571	1:113,455,997	G/C	—	uncertain significance
rs1407575522	1:113,456,152	C/A	—	uncertain significance
rs41306207	1:113,456,181	A/G	—	likely benign
rs11585690	1:113,456,368	C/A	—	likely benign
rs1223206132	1:113,456,376	T/A	—	uncertain significance
rs182505461	1:113,456,409	G/A	—	uncertain significance
rs868304120	1:113,456,436	G/A	—	uncertain significance
rs2525072232	1:113,456,528	C/T	—	likely benign
rs1648409547	1:113,456,540	C/T	—	likely benign
rs1049434	1:113,456,546	A/T	missense variant	benign
rs2525072505	1:113,456,563	C/A	—	uncertain significance
rs17852382	1:113,456,564	C/T	—	conflicting classifications of pathogenicity
rs767509828	1:113,456,565	G/A	—	uncertain significance
rs2525072558	1:113,456,569	A/T	—	uncertain significance
rs886045067	1:113,456,586	A/G	—	uncertain significance
rs752493155	1:113,456,587	C/G	—	uncertain significance
rs537543500	1:113,456,591	A/G	—	likely benign
rs766153715	1:113,456,595	G/T	—	uncertain significance
rs72552271	1:113,456,602	C/T	missense variant	pathogenic
rs752237118	1:113,456,604	G/C	—	uncertain significance
rs1430280676	1:113,456,619	G/T	—	uncertain significance
rs746152220	1:113,456,632	T/C	—	uncertain significance
rs1340457702	1:113,456,647	G/A	—	uncertain significance
rs554138665	1:113,456,649	T/A	—	uncertain significance
rs957406167	1:113,456,650	C/G	—	uncertain significance
rs142145546	1:113,456,651	G/A	—	likely benign
rs748247375	1:113,456,662	G/T	—	uncertain significance
rs2101618120	1:113,456,670	G/A	—	uncertain significance
rs756006376	1:113,456,671	C/T	—	uncertain significance
rs773196238	1:113,456,674	A/G	—	conflicting classifications of pathogenicity
rs760585899	1:113,456,679	C/T	—	uncertain significance
rs759151193	1:113,456,681	A/G	—	likely benign
rs2525073554	1:113,456,707	G/C	—	uncertain significance
rs750932034	1:113,456,713	T/C	—	uncertain significance
rs1648419142	1:113,456,715	C/T	—	uncertain significance
rs1280296682	1:113,456,716	C/T	—	uncertain significance
rs151166713	1:113,456,731	C/T	—	uncertain significance
rs774103196	1:113,456,732	G/A	—	uncertain significance
rs749690222	1:113,456,733	A/C	—	uncertain significance
rs536012651	1:113,456,734	C/T	—	likely benign
rs779279429	1:113,456,735	G/A	—	conflicting classifications of pathogenicity
rs921694434	1:113,456,749	A/T	—	uncertain significance
rs776362431	1:113,456,769	T/C	—	uncertain significance
rs764803533	1:113,456,772	A/G	—	uncertain significance
rs375986619	1:113,456,780	G/A	—	likely benign
rs1308624795	1:113,456,784	C/T	—	uncertain significance
rs763641576	1:113,456,785	G/T	—	uncertain significance
rs1648422700	1:113,456,787	C/T	—	uncertain significance
rs754185298	1:113,456,804	A/C	—	uncertain significance
rs759080685	1:113,456,807	C/G	—	likely benign
rs1203696687	1:113,459,783	A/C	—	likely benign
rs199927572	1:113,459,784	G/A	—	likely benign
rs190615745	1:113,459,794	C/T	—	uncertain significance
rs941306130	1:113,459,796	A/G	—	uncertain significance
rs551702337	1:113,459,818	G/A	—	likely benign
rs749062304	1:113,459,861	G/A	—	likely benign
rs773868602	1:113,459,871	C/G	—	uncertain significance
rs1294613707	1:113,459,880	C/A	—	uncertain significance
rs1425776189	1:113,459,896	A/G	—	likely benign
rs200802632	1:113,459,911	C/T	—	uncertain significance
rs150299630	1:113,459,927	G/A	—	likely benign
rs562663172	1:113,459,949	G/C	—	uncertain significance
rs1226416477	1:113,459,952	T/C	—	uncertain significance
rs371130423	1:113,459,958	C/T	—	uncertain significance
rs764586034	1:113,459,961	A/T	—	uncertain significance
rs140728650	1:113,459,965	C/T	—	conflicting classifications of pathogenicity
rs767557808	1:113,459,970	T/C	—	uncertain significance
rs750535439	1:113,459,972	G/C	—	likely benign
rs200783174	1:113,459,973	G/A	—	uncertain significance
rs1180483725	1:113,459,974	T/C	—	uncertain significance
rs1205900934	1:113,459,979	G/C	—	uncertain significance
rs138440853	1:113,459,990	T/C	—	likely benign
rs754712133	1:113,459,992	G/A	—	likely benign
rs747770527	1:113,459,996	A/G	—	likely benign
rs746530125	1:113,460,019	C/T	—	uncertain significance
rs578006374	1:113,460,020	G/A	—	likely benign
rs114731222	1:113,460,026	C/T	—	likely benign
rs763573918	1:113,460,027	G/A	—	uncertain significance

Showing 100 of 242 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.