SLC19A2

solute carrier family 19 member 2

Summary

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Known Variants323 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs776987873	1:169,433,159	A/G	—	uncertain significance
rs1657926116	1:169,433,160	G/A	—	uncertain significance
rs12091844	1:169,433,273	T/C	—	likely benign
rs886045521	1:169,433,499	A/C	—	uncertain significance
rs1657937297	1:169,433,544	G/C	—	uncertain significance
rs79478264	1:169,433,563	G/A	—	conflicting classifications of pathogenicity
rs886045523	1:169,433,564	T/C	—	uncertain significance
rs886045524	1:169,433,594	C/T	—	uncertain significance
rs74121673	1:169,433,666	T/C	—	likely benign
rs1657943320	1:169,433,738	A/G	—	uncertain significance
rs181914254	1:169,433,841	A/C	—	uncertain significance
rs922589020	1:169,433,901	T/C	—	uncertain significance
rs16862199	1:169,434,120	C/T	—	benign
rs1038511649	1:169,434,429	A/G	—	uncertain significance
rs757466309	1:169,434,449	C/T	—	uncertain significance
rs886045527	1:169,434,460	G/A	—	uncertain significance
rs1657963505	1:169,434,647	A/G	—	uncertain significance
rs886045528	1:169,434,697	A/C	—	uncertain significance
rs562829928	1:169,434,832	T/A	—	uncertain significance
rs1657969443	1:169,434,913	G/C	—	uncertain significance
rs2678166	1:169,435,027	C/T	—	benign
rs376279404	1:169,435,036	G/C	—	uncertain significance
rs777625943	1:169,435,056	T/C	—	uncertain significance
rs2526228832	1:169,435,090	T/C	—	likely benign
rs769397647	1:169,435,095	T/C	—	conflicting classifications of pathogenicity
rs2526228863	1:169,435,096	G/A	—	likely benign
rs2526228891	1:169,435,105	A/G	—	likely benign
rs1269772966	1:169,435,114	T/C	—	likely benign
rs1426890529	1:169,435,117	T/C	—	likely benign
rs760172630	1:169,435,126	C/T	—	likely benign
rs1424765654	1:169,435,128	G/A	—	likely benign
rs768199279	1:169,435,131	T/A	—	uncertain significance
rs763547290	1:169,435,135	A/G	—	likely benign
rs374046494	1:169,435,145	A/G	—	uncertain significance
rs751968628	1:169,435,149	C/T	—	uncertain significance
rs2526229018	1:169,435,153	G/A	—	likely benign
rs2526229114	1:169,435,171	G/A	—	likely benign
rs752899125	1:169,435,174	A/G	—	likely benign
rs147884156	1:169,435,182	C/T	—	uncertain significance
rs370262388	1:169,435,183	G/A	—	likely benign
rs1657976898	1:169,435,186	G/A	—	likely benign
rs151078749	1:169,435,201	G/A	—	likely benign
rs150315717	1:169,435,214	A/T	—	uncertain significance
rs2526229259	1:169,435,219	G/A	—	likely benign
rs1305832568	1:169,435,221	A/C	—	likely benign
rs2526229280	1:169,435,223	G/A	—	likely benign
rs1387197996	1:169,435,224	G/C	—	likely benign
rs2526229294	1:169,435,230	A/G	—	likely benign
rs1553211553	1:169,435,231	G/A	—	likely benign
rs113759111	1:169,435,270	T/C	—	likely benign
rs538851000	1:169,435,340	C/G	—	likely benign
rs73051105	1:169,435,399	G/A	—	benign
rs3765227	1:169,437,153	C/A	—	likely benign
rs1315173569	1:169,437,329	T/C	—	likely benign
rs2526234079	1:169,437,331	C/A	—	likely benign
rs1482562555	1:169,437,334	A/C	—	likely benign
rs2526234097	1:169,437,342	A/G	—	likely benign
rs140938034	1:169,437,355	G/A	—	likely benign
rs754002628	1:169,437,387	C/T	—	uncertain significance
rs17847484	1:169,437,392	A/G	—	likely benign
rs148027038	1:169,437,402	G/A	—	uncertain significance
rs867969136	1:169,437,403	C/T	—	likely benign
rs375822491	1:169,437,406	C/A	—	likely benign
rs746730218	1:169,437,407	G/A	—	uncertain significance
rs747756819	1:169,437,415	T/A	—	likely benign
rs369961479	1:169,437,420	G/A	—	likely benign
rs772649755	1:169,437,421	G/A	—	likely benign
rs746375841	1:169,437,423	C/A	—	uncertain significance
rs200813632	1:169,437,436	T/C	—	likely benign
rs1231702573	1:169,437,438	C/T	—	conflicting classifications of pathogenicity
rs917473133	1:169,437,439	A/G	—	likely benign
rs778218161	1:169,437,451	G/A	—	likely benign
rs530420883	1:169,437,458	C/T	—	uncertain significance
rs200631927	1:169,437,459	G/A	—	uncertain significance
rs758431347	1:169,437,469	G/A	—	likely benign
rs751410694	1:169,437,498	A/G	—	likely benign
rs754724464	1:169,437,508	G/A	—	likely benign
rs772619174	1:169,437,862	C/G	—	likely benign
rs2526235860	1:169,437,865	T/C	—	likely benign
rs565882872	1:169,437,866	G/A	—	likely benign
rs1658090931	1:169,437,868	G/C	—	likely benign
rs768890368	1:169,437,881	C/T	—	pathogenic
rs765684661	1:169,437,882	G/A	—	uncertain significance
rs61049753	1:169,437,890	C/T	—	likely benign
rs554433074	1:169,437,891	G/C	—	likely pathogenic
rs576208768	1:169,437,892	T/C	—	uncertain significance
rs1658092152	1:169,437,896	G/A	—	likely benign
rs376962780	1:169,437,905	G/A	—	likely benign
rs371383730	1:169,437,916	T/A	—	pathogenic
rs558610619	1:169,437,926	A/G	—	likely benign
rs191739057	1:169,437,927	T/C	—	uncertain significance
rs753390368	1:169,437,929	G/A	—	likely benign
rs756721026	1:169,437,934	C/T	—	uncertain significance
rs2526236132	1:169,437,939	C/A	—	uncertain significance
rs1571531732	1:169,437,945	C/T	—	pathogenic
rs2526236178	1:169,437,950	G/A	—	likely benign
rs747484241	1:169,437,956	C/G	—	uncertain significance
rs375188929	1:169,437,966	A/G	—	uncertain significance
rs781443514	1:169,437,971	A/G	—	likely benign
rs770179076	1:169,437,974	C/T	—	likely benign

Showing 100 of 323 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.