UGGT2

UDP-glucose glycoprotein glucosyltransferase 2

Summary

UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]

Known Variants103 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3125438	13:96,480,271	C/A	—	—
rs1196990535	13:96,485,183	G/T	—	uncertain significance
rs146015664	13:96,485,204	A/G	—	uncertain significance
rs1035277465	13:96,489,350	G/A	—	uncertain significance
rs200969841	13:96,489,427	G/A	—	likely benign
rs375007537	13:96,498,333	G/C	—	—
rs186886479	13:96,504,990	T/A	intron variant	—
rs1440492336	13:96,505,804	A/T	—	uncertain significance
rs1409307368	13:96,505,841	G/C	—	uncertain significance
rs1594153202	13:96,505,909	G/A	—	uncertain significance
rs956778783	13:96,506,575	T/C	—	uncertain significance
rs140498019	13:96,506,585	G/A	—	uncertain significance
rs145358686	13:96,506,633	C/T	—	likely benign
rs559674459	13:96,506,707	T/A	—	uncertain significance
rs747308176	13:96,508,447	C/G	—	uncertain significance
rs763999611	13:96,508,474	G/T	—	uncertain significance
rs755756370	13:96,508,522	G/A	—	uncertain significance
rs35123499	13:96,508,566	T/A	—	benign
rs755219228	13:96,511,878	C/G	—	uncertain significance
rs367978080	13:96,511,906	C/T	—	uncertain significance
rs1323965812	13:96,513,057	T/C	—	uncertain significance
rs775380168	13:96,513,067	C/T	—	uncertain significance
rs1469401496	13:96,513,082	A/C	—	uncertain significance
rs866535349	13:96,515,891	G/A	—	likely benign
rs4347496	13:96,517,374	T/C	intron variant	—
rs747193670	13:96,529,548	A/G	—	uncertain significance
rs941737672	13:96,529,566	T/C	—	uncertain significance
rs753290588	13:96,529,960	C/T	—	uncertain significance
rs373568136	13:96,530,022	C/T	—	likely benign
rs147686486	13:96,530,055	T/C	—	uncertain significance
rs201202361	13:96,536,747	C/T	—	uncertain significance
rs1484839539	13:96,536,759	T/C	—	uncertain significance
rs766796223	13:96,536,765	C/T	—	uncertain significance
rs1402958525	13:96,536,820	G/T	—	uncertain significance
rs369600465	13:96,536,878	G/C	—	uncertain significance
rs200610064	13:96,536,927	G/A	—	uncertain significance
rs45627340	13:96,543,106	A/G	—	benign
rs1242837482	13:96,543,190	C/T	—	uncertain significance
rs1310746337	13:96,543,213	A/G	—	uncertain significance
rs137916941	13:96,546,880	G/A	—	uncertain significance
rs938830741	13:96,546,889	C/T	—	likely benign
rs2502266712	13:96,547,438	T/G	—	uncertain significance
rs144777472	13:96,547,441	C/T	—	uncertain significance
rs751891300	13:96,547,450	C/T	—	uncertain significance
rs1239836377	13:96,553,068	T/C	—	uncertain significance
rs777426650	13:96,553,071	C/G	—	uncertain significance
rs2502331303	13:96,553,158	T/C	—	uncertain significance
rs377439691	13:96,555,146	T/C	—	uncertain significance
rs778483829	13:96,555,296	G/A	—	uncertain significance
rs375858438	13:96,555,297	A/G	—	likely benign
rs140793510	13:96,577,972	A/G	—	uncertain significance
rs374914289	13:96,578,023	T/G	—	uncertain significance
rs371334164	13:96,579,337	A/C	—	uncertain significance
rs62620239	13:96,579,380	A/C	—	likely benign
rs9525086	13:96,579,462	T/C	—	benign
rs778858833	13:96,579,488	G/A	—	uncertain significance
rs760274174	13:96,579,505	C/T	—	likely benign
rs750639217	13:96,579,529	G/C	—	uncertain significance
rs142975988	13:96,579,544	C/G	—	uncertain significance
rs748027111	13:96,579,546	A/C	—	uncertain significance
rs193238563	13:96,579,574	C/T	—	likely benign
rs7992824	13:96,580,858	G/T	—	—
rs763978613	13:96,589,275	G/C	—	uncertain significance
rs2502754556	13:96,592,288	C/T	—	uncertain significance
rs756532917	13:96,592,311	A/C	—	uncertain significance
rs780090354	13:96,592,314	A/G	—	uncertain significance
rs1177600677	13:96,599,313	T/C	—	uncertain significance
rs1301915311	13:96,599,340	T/C	—	uncertain significance
rs1233705537	13:96,599,350	C/G	—	uncertain significance
rs1440236090	13:96,599,422	C/A	—	uncertain significance
rs979708603	13:96,600,299	C/A	—	uncertain significance
rs898445436	13:96,601,678	A/T	—	uncertain significance
rs2049988113	13:96,601,704	A/G	—	uncertain significance
rs986068854	13:96,622,367	A/G	—	uncertain significance
rs376715820	13:96,622,409	C/G	—	uncertain significance
rs139369593	13:96,622,483	C/A	—	likely benign
rs780935476	13:96,622,490	C/T	—	uncertain significance
rs780073584	13:96,624,856	T/C	—	uncertain significance
rs148790612	13:96,624,885	C/T	—	uncertain significance
rs2502983624	13:96,624,904	T/C	—	uncertain significance
rs759071311	13:96,624,909	A/T	—	uncertain significance
rs144012178	13:96,636,082	T/A	—	uncertain significance
rs745490630	13:96,636,117	A/T	—	uncertain significance
rs144698764	13:96,642,236	C/T	—	uncertain significance
rs73562939	13:96,648,384	T/C	—	benign
rs531432	13:96,648,742	C/A	—	—
rs769188689	13:96,651,522	C/T	—	uncertain significance
rs1311041972	13:96,651,534	A/G	—	uncertain significance
rs566535536	13:96,651,555	T/C	—	uncertain significance
rs2503188795	13:96,665,623	T/C	—	uncertain significance
rs779784753	13:96,665,634	C/T	—	uncertain significance
rs769868774	13:96,665,671	C/T	—	uncertain significance
rs774720371	13:96,665,695	T/C	—	uncertain significance
rs148108950	13:96,665,697	G/A	—	likely benign
rs752138361	13:96,665,703	T/G	—	uncertain significance
rs770918231	13:96,675,920	A/G	—	uncertain significance
rs775412615	13:96,675,944	T/C	—	uncertain significance
rs2503272722	13:96,684,170	G/C	—	uncertain significance
rs2052847964	13:96,684,178	T/C	—	uncertain significance
rs367679687	13:96,684,203	T/C	—	uncertain significance

Showing 100 of 103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.