{{Rsnum
|rsid=1801019
|Gene=UMPS
|Chromosome=3
|position=124737895
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.1699
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=UMPS
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 3.1 | 26.2 | 70.8
| HCB | 4.4 | 17.8 | 77.8
| JPT | 4.5 | 45.5 | 50.0
| YRI | 1.6 | 27.0 | 71.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 4.4 | 17.8 | 77.8
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1801019
|allele=C
|frequency=0.15
|uid=1103656217063
|type=heterozygous_SNP
|hugo=UMPS
|ensembl gene=ENSG00000114491
|ensembl transcript=ENST00000232607
|sift=TOLERATED
|disease=Defects in UMPS are a cause of hereditary orotic aciduria (HOA) (MIM:258900); also known as orotic aciduria type 1, a recessive disease characterized by retarded growth, anemia, and excessive urinary excretion of orotic acid.
}}

{{PharmGKB
|RSID=rs1801019
|Name_s=OPRT: Gly213Ala
|Gene_s=UMPS
|Feature=
|Evidence=PubMed ID:16818689
|Annotation=The Ala (C) allele of this SNP is associated with grade 3 to 4 neutropenia and diarrhea and is an independent predictor of diarrhea in patients with colorectal neoplasms.
|Drugs=fluorouracil
|Drug Classes=
|Diseases=Diarrhea; Neutropenia
|Curation Level=Curated
|PharmGKB Accession ID=PA162355643
}}

{{GET Evidence
|gene=UMPS
|aa_change=Gly213Ala
|aa_change_short=G213A
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801019
|overall_frequency_n=1779
|overall_frequency_d=10758
|overall_frequency=0.165365
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=31
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}