UGT1A10

UDP glucuronosyltransferase family 1 member A10

Summary

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]

Known Variants108 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs183044833	2:234,544,254	G/A	upstream gene variant	—
rs17864678	2:234,544,610	T/A	upstream gene variant	—
rs749394452	2:234,545,196	G/A	—	uncertain significance
rs2073295218	2:234,545,199	C/G	—	uncertain significance
rs1234228886	2:234,545,221	T/C	—	uncertain significance
rs148751804	2:234,545,230	G/C	—	uncertain significance
rs762095358	2:234,545,245	G/A	—	uncertain significance
rs779124321	2:234,545,326	A/T	—	uncertain significance
rs377463132	2:234,545,518	T/C	—	uncertain significance
rs2471421379	2:234,545,538	T/C	—	uncertain significance
rs1167236595	2:234,545,754	G/C	—	uncertain significance
rs45523834	2:234,545,765	T/C	—	benign
rs144759885	2:234,545,792	G/A	stop gained	—
rs139087628	2:234,545,802	G/C	—	uncertain significance
rs753054350	2:234,545,817	C/A	—	uncertain significance
rs201460311	2:234,545,859	G/A	—	uncertain significance
rs45563247	2:234,545,881	C/T	—	uncertain significance
rs2471423430	2:234,545,950	A/G	—	uncertain significance
rs142662851	2:234,545,961	G/A	—	uncertain significance
rs376610929	2:234,545,997	T/C	—	uncertain significance
rs10929251	2:234,546,229	A/G	intron variant	—
rs185924649	2:234,546,339	C/T	intron variant	—
rs138562568	2:234,546,470	A/G	intron variant	—
rs2741034	2:234,548,814	A/G	intron variant	—
rs28969691	2:234,549,226	T/C	intron variant	—
rs72984479	2:234,553,392	G/A	upstream gene variant	—
rs182693186	2:234,562,801	T/A	intron variant	—
rs11892031	2:234,565,283	A/C	regulatory region variant	—
rs7571337	2:234,566,418	T/G	—	—
rs6714486	2:234,580,305	T/A	upstream gene variant	—
rs145084767	2:234,580,588	G/A	missense variant	Likely benign
rs143487779	2:234,580,842	C/T	missense variant	—
rs58597806	2:234,581,346	G/A	missense variant	—
rs2602381	2:234,584,324	T/C	intron variant	—
rs141230614	2:234,587,814	C/T	regulatory region variant	—
rs7586110	2:234,590,527	T/G	regulatory region variant	pathogenic
rs17868323	2:234,590,970	T/G	missense variant	benign
rs11692021	2:234,591,205	T/C	missense variant	benign
rs28898568	2:234,592,634	C/T	intron variant	—
rs10168416	2:234,597,087	C/G	upstream gene variant	—
rs10179094	2:234,597,825	T/A	regulatory region variant	—
rs6759892	2:234,601,669	T/G	missense variant	benign
rs2070959	2:234,602,191	A/G	missense variant	benign
rs1105879	2:234,602,202	A/C	missense variant	benign
rs17863783	2:234,602,277	G/T	synonymous variant	benign
rs182385495	2:234,610,546	C/A	intron variant	—
rs4439950	2:234,612,516	A/T	intron variant	—
rs10180090	2:234,613,707	G/T	—	—
rs3755320	2:234,622,061	C/A	missense variant	—
rs17868335	2:234,624,983	C/T	—	—
rs6744284	2:234,625,297	C/T	downstream gene variant	—
rs869283	2:234,626,287	G/A	downstream gene variant	—
rs2008584	2:234,637,015	A/G	upstream gene variant	—
rs6431625	2:234,637,912	T/G	missense variant	—
rs11891311	2:234,639,310	G/A	intron variant	—
rs13410335	2:234,642,015	T/C	—	—
rs7567468	2:234,642,838	C/T	upstream gene variant	—
rs6722076	2:234,647,317	G/C	—	—
rs17864701	2:234,652,717	C/T	upstream gene variant	—
rs562746713	2:234,657,032	G/A	—	—
rs28900384	2:234,657,937	C/G	downstream gene variant	—
rs187295904	2:234,658,801	A/G	downstream gene variant	—
rs183484892	2:234,663,274	C/T	coding sequence variant	—
rs6747843	2:234,664,354	G/A	upstream gene variant	—
rs4124874	2:234,665,659	T/G	regulatory region variant	pathogenic
rs10929302	2:234,665,782	G/A	regulatory region variant	drug response
rs1976391	2:234,665,983	A/G	upstream gene variant	—
rs4399719	2:234,666,461	T/G	upstream gene variant	—
rs12052787	2:234,666,581	C/G	—	—
rs3755319	2:234,667,582	A/C	upstream gene variant	pathogenic
rs2003569	2:234,667,937	G/C	—	—
rs34916116	2:234,668,290	C/G	—	—
rs34547608	2:234,668,828	T/C	regulatory region variant	benign
rs34983651	2:234,668,879	—	—	—
rs111033541	2:234,668,977	T/G	missense variant	pathogenic
rs587776765	2:234,669,078	C/T	stop gained	pathogenic
rs587776763	2:234,669,407	—	—	pathogenic
rs72551341	2:234,669,457	T/A	missense variant	pathogenic
rs35003977	2:234,669,607	T/G	missense variant	pathogenic
rs35350960	2:234,669,619	C/T	missense variant	pathogenic
rs281865418	2:234,669,773	C/A	stop gained	pathogenic
rs587776764	2:234,669,798	G/C	—	pathogenic
rs112277298	2:234,671,720	C/T	intron variant	—
rs6742078	2:234,672,639	G/T	intron variant	association
rs4148324	2:234,672,722	T/G	intron variant	benign
rs4148325	2:234,673,309	C/T	regulatory region variant	—
rs4663971	2:234,674,252	C/T	—	—
rs62625011	2:234,675,738	G/A	missense variant	pathogenic
rs111033539	2:234,675,806	C/T	stop gained	pathogenic
rs72551348	2:234,675,807	A/G	missense variant	pathogenic
rs139607673	2:234,676,504	C/T	missense variant	pathogenic
rs72551349	2:234,676,519	C/T	stop gained	pathogenic
rs72551350	2:234,676,567	C/T	stop gained	pathogenic
rs72551351	2:234,676,568	A/G	missense variant	pathogenic
rs755218546	2:234,676,582	G/A	missense variant	pathogenic
rs587784535	2:234,676,583	G/T	—	pathogenic
rs587776766	2:234,676,864	A/G	—	pathogenic
rs34946978	2:234,676,872	C/T	missense variant	pathogenic
rs72551353	2:234,676,905	C/T	missense variant	pathogenic
rs28934877	2:234,676,979	A/C	missense variant	uncertain significance

Showing 100 of 108 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.