SLC6A19

solute carrier family 6 member 19

Summary

This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]

Known Variants395 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7379677	5:1,201,464	A/G	—	benign
rs7381010	5:1,201,506	C/T	—	benign
rs67330201	5:1,201,758	C/T	—	benign
rs367576369	5:1,201,769	G/T	—	likely benign
rs149106209	5:1,201,777	C/T	—	likely benign
rs200608959	5:1,201,778	G/A	—	uncertain significance
rs557180261	5:1,201,789	C/A	—	uncertain significance
rs1421994940	5:1,201,790	C/A	—	uncertain significance
rs143171731	5:1,201,791	C/T	—	uncertain significance
rs370311234	5:1,201,792	C/T	—	likely benign
rs138944821	5:1,201,793	G/A	—	uncertain significance
rs142954960	5:1,201,794	G/A	—	uncertain significance
rs377331317	5:1,201,801	C/T	—	likely benign
rs200291939	5:1,201,802	G/A	—	uncertain significance
rs754340294	5:1,201,805	C/T	—	uncertain significance
rs147458082	5:1,201,806	G/A	—	likely benign
rs138390777	5:1,201,810	C/G	—	likely benign
rs201925289	5:1,201,812	C/T	—	conflicting classifications of pathogenicity
rs141911612	5:1,201,813	G/A	—	likely benign
rs2477905668	5:1,201,821	C/T	—	uncertain significance
rs748068856	5:1,201,832	A/G	—	uncertain significance
rs769288666	5:1,201,835	A/G	—	uncertain significance
rs772851309	5:1,201,836	T/C	—	uncertain significance
rs373974416	5:1,201,837	C/T	—	likely benign
rs770692493	5:1,201,838	G/A	—	uncertain significance
rs150662417	5:1,201,844	G/C	—	uncertain significance
rs202191814	5:1,201,848	A/T	—	conflicting classifications of pathogenicity
rs768931226	5:1,201,849	G/A	—	likely benign
rs762242971	5:1,201,859	C/T	—	uncertain significance
rs190631924	5:1,201,860	G/A	—	uncertain significance
rs202242697	5:1,201,862	C/A	—	uncertain significance
rs766566496	5:1,201,863	C/T	—	uncertain significance
rs139908611	5:1,201,879	G/A	—	benign
rs149830504	5:1,201,882	G/A	—	likely benign
rs144373119	5:1,201,890	T/C	—	uncertain significance
rs770600548	5:1,201,897	C/T	—	likely benign
rs796064507	5:1,201,911	G/A	—	not provided
rs778666369	5:1,201,912	C/T	—	likely benign
rs745526472	5:1,201,913	G/A	—	uncertain significance
rs146382764	5:1,201,921	C/T	—	likely benign
rs139760936	5:1,201,927	C/T	—	likely benign
rs1745712448	5:1,201,932	G/A	—	pathogenic
rs762989809	5:1,201,934	C/T	—	conflicting classifications of pathogenicity
rs146608591	5:1,201,935	G/A	—	likely pathogenic
rs1328914708	5:1,201,940	C/T	—	uncertain significance
rs1554033750	5:1,201,945	C/G	—	likely pathogenic
rs143165913	5:1,201,960	C/T	—	likely benign
rs760214069	5:1,201,978	C/T	—	likely benign
rs369314798	5:1,201,979	G/A	—	likely benign
rs199733213	5:1,201,982	C/T	—	likely benign
rs111266807	5:1,201,983	G/A	—	likely benign
rs1745714475	5:1,201,986	G/C	—	likely benign
rs13188787	5:1,202,000	C/T	—	benign
rs13188961	5:1,202,142	C/T	—	benign
rs72709406	5:1,204,543	T/G	intron variant	—
rs749718203	5:1,208,846	C/A	—	likely benign
rs2477922990	5:1,208,851	C/T	—	likely benign
rs1312972325	5:1,208,857	G/T	—	likely benign
rs772220705	5:1,208,862	A/G	—	likely benign
rs1745927166	5:1,208,874	C/G	—	uncertain significance
rs776566109	5:1,208,877	G/A	—	likely benign
rs371759358	5:1,208,928	C/T	—	likely benign
rs376995967	5:1,208,929	G/A	—	uncertain significance
rs146678323	5:1,208,934	C/T	—	likely benign
rs757679627	5:1,208,935	G/A	—	likely pathogenic
rs201936518	5:1,208,942	G/A	—	conflicting classifications of pathogenicity
rs747155573	5:1,208,947	C/T	—	uncertain significance
rs768989277	5:1,208,948	G/A	—	uncertain significance
rs777046481	5:1,208,950	C/T	—	uncertain significance
rs369605197	5:1,208,951	G/A	—	uncertain significance
rs762963674	5:1,208,960	T/A	—	uncertain significance
rs60992377	5:1,208,964	T/C	—	benign
rs759094266	5:1,208,969	G/A	—	likely pathogenic
rs1443614225	5:1,208,976	C/T	—	likely benign
rs114684753	5:1,208,985	G/A	—	benign
rs937924348	5:1,209,010	C/T	—	likely benign
rs146085736	5:1,209,012	C/T	—	likely benign
rs6865548	5:1,209,016	G/A	—	benign
rs72709422	5:1,209,063	A/T	—	benign
rs76678756	5:1,209,185	C/G	—	benign
rs74938348	5:1,209,193	C/G	—	benign
rs1414186057	5:1,210,541	G/T	—	likely benign
rs1745992471	5:1,210,543	A/G	—	likely benign
rs776190470	5:1,210,578	G/A	—	likely benign
rs766877452	5:1,210,588	G/T	—	uncertain significance
rs1022717759	5:1,210,607	C/T	—	uncertain significance
rs2126499818	5:1,210,616	C/T	—	uncertain significance
rs752055539	5:1,210,625	T/C	—	uncertain significance
rs2477927790	5:1,210,627	T/G	—	uncertain significance
rs199754599	5:1,210,632	C/T	—	likely benign
rs1579511366	5:1,210,635	A/G	—	likely benign
rs368969196	5:1,210,649	A/G	—	uncertain significance
rs756989097	5:1,210,668	C/T	—	likely benign
rs551617040	5:1,210,669	G/A	—	uncertain significance
rs775341644	5:1,210,677	G/A	—	likely benign
rs761571015	5:1,210,684	G/A	—	uncertain significance
rs376433704	5:1,210,691	A/G	—	likely benign
rs370624507	5:1,210,708	C/G	—	likely benign
rs368957196	5:1,210,714	G/T	—	likely benign
rs4358564	5:1,210,789	A/G	—	benign

Showing 100 of 395 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.