UMPS

uridine monophosphate synthetase

Summary

This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Known Variants247 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12487919	3:124,447,544	C/T	upstream gene variant	—
rs62265615	3:124,447,572	A/G	—	—
rs17843768	3:124,448,385	C/A	upstream gene variant	—
rs2669919	3:124,448,930	T/G	—	benign
rs2279198	3:124,449,209	A/G	—	benign
rs2279199	3:124,449,252	T/C	—	benign
rs1139538	3:124,449,291	A/G	—	benign
rs747117815	3:124,449,300	A/G	—	uncertain significance
rs1229286305	3:124,449,320	T/C	—	uncertain significance
rs201130807	3:124,449,328	G/C	—	uncertain significance
rs141501397	3:124,449,336	A/G	—	likely benign
rs17843775	3:124,449,339	T/C	—	likely benign
rs778459759	3:124,449,348	A/G	—	likely benign
rs769561118	3:124,449,363	G/A	—	likely benign
rs2150889339	3:124,449,374	A/T	—	uncertain significance
rs17843776	3:124,449,406	A/G	—	conflicting classifications of pathogenicity
rs772728104	3:124,449,423	C/T	—	uncertain significance
rs143828400	3:124,449,444	C/A	—	conflicting classifications of pathogenicity
rs17843793	3:124,451,570	C/G	—	—
rs759317231	3:124,453,920	A/T	—	likely benign
rs1224759388	3:124,453,936	A/G	—	likely benign
rs539724738	3:124,453,957	C/T	—	likely benign
rs370656763	3:124,453,993	C/T	—	likely benign
rs1362850727	3:124,454,005	G/A	—	likely benign
rs2150894350	3:124,454,013	C/A	—	uncertain significance
rs1056229313	3:124,454,037	T/C	—	uncertain significance
rs121917890	3:124,454,069	A/G	missense variant	pathogenic
rs780788052	3:124,454,101	A/G	—	likely benign
rs3772804	3:124,454,174	A/G	—	benign
rs16835929	3:124,455,214	A/C	—	—
rs142349403	3:124,456,424	G/A	—	conflicting classifications of pathogenicity
rs121917892	3:124,456,430	T/G	missense variant	pathogenic
rs2150896247	3:124,456,438	A/G	—	uncertain significance
rs193220943	3:124,456,440	T/A	—	benign
rs779723295	3:124,456,447	C/T	—	uncertain significance
rs1030302556	3:124,456,464	A/G	—	likely benign
rs747405574	3:124,456,489	G/T	—	conflicting classifications of pathogenicity
rs886057871	3:124,456,545	T/C	—	uncertain significance
rs2481575293	3:124,456,547	A/T	—	uncertain significance
rs757137245	3:124,456,553	T/A	—	uncertain significance
rs368442688	3:124,456,598	C/T	—	uncertain significance
rs75971351	3:124,456,599	G/A	—	conflicting classifications of pathogenicity
rs377094041	3:124,456,602	C/T	—	likely benign
rs184856674	3:124,456,603	G/A	—	uncertain significance
rs141640285	3:124,456,629	A/G	—	likely benign
rs763120968	3:124,456,654	G/A	—	uncertain significance
rs766371401	3:124,456,685	T/C	—	uncertain significance
rs1295165267	3:124,456,720	T/G	—	uncertain significance
rs778507698	3:124,456,721	T/C	—	uncertain significance
rs371813267	3:124,456,731	G/A	—	likely benign
rs2063528664	3:124,456,739	A/G	—	uncertain significance
rs781482063	3:124,456,740	T/C	—	likely benign
rs1801019	3:124,456,742	G/C	missense variant	benign
rs1559905153	3:124,456,774	G/T	—	pathogenic
rs148036615	3:124,456,785	C/T	—	likely benign
rs201260688	3:124,456,786	G/A	—	uncertain significance
rs772436591	3:124,456,792	C/T	—	uncertain significance
rs772815894	3:124,456,793	G/A	—	conflicting classifications of pathogenicity
rs558144411	3:124,456,805	C/A	—	uncertain significance
rs2063529251	3:124,456,807	A/G	—	conflicting classifications of pathogenicity
rs766204889	3:124,456,820	T/C	—	uncertain significance
rs753854568	3:124,456,826	C/T	—	uncertain significance
rs764788989	3:124,456,830	G/A	—	likely benign
rs2063529521	3:124,456,844	T/G	—	uncertain significance
rs780392037	3:124,456,872	A/G	—	conflicting classifications of pathogenicity
rs902519177	3:124,456,902	G/A	—	likely benign
rs2063529927	3:124,456,903	T/C	—	uncertain significance
rs779077289	3:124,456,915	G/C	—	uncertain significance
rs140804035	3:124,456,931	G/A	—	uncertain significance
rs200305064	3:124,456,961	T/A	missense variant	pathogenic
rs1175826147	3:124,456,962	T/A	—	likely benign
rs763628618	3:124,456,993	G/A	—	uncertain significance
rs1205544358	3:124,457,021	A/C	—	uncertain significance
rs2481577574	3:124,457,025	C/A	—	uncertain significance
rs2481577608	3:124,457,030	T/A	—	uncertain significance
rs375821728	3:124,457,041	C/T	—	uncertain significance
rs375535366	3:124,457,057	T/C	—	uncertain significance
rs771075296	3:124,457,062	A/G	—	uncertain significance
rs1553748674	3:124,457,087	G/C	—	uncertain significance
rs745697791	3:124,457,088	T/A	—	uncertain significance
rs3772806	3:124,458,333	C/T	intron variant	—
rs694897	3:124,458,816	G/C	—	benign
rs1559906084	3:124,458,869	A/G	—	uncertain significance
rs371015972	3:124,458,905	A/G	—	likely benign
rs17843835	3:124,458,926	A/G	—	benign
rs2291078	3:124,458,938	T/A	—	benign
rs763246334	3:124,458,940	T/C	—	uncertain significance
rs202135467	3:124,458,951	C/A	—	uncertain significance
rs201332523	3:124,458,976	G/A	—	uncertain significance
rs2481583702	3:124,458,980	G/A	—	likely benign
rs2481583747	3:124,458,987	C/A	—	uncertain significance
rs541686805	3:124,459,005	T/G	—	uncertain significance
rs1344899647	3:124,459,011	G/A	—	likely pathogenic
rs537830992	3:124,459,034	C/T	—	likely benign
rs1204450021	3:124,459,035	A/G	—	uncertain significance
rs202158549	3:124,459,045	C/T	—	uncertain significance
rs749629397	3:124,459,046	G/A	—	uncertain significance
rs371807738	3:124,459,056	G/C	—	uncertain significance
rs1353914568	3:124,460,980	C/T	—	likely benign
rs547350809	3:124,461,051	C/T	—	uncertain significance

Showing 100 of 247 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.