present in Gene: UMPS
present in Chromosome: 3
Position on Chromosome: 124735222
Alleles of this Variant: A/G
rs121917890 in
UMPS gene and
Hereditary orotic aciduria, type 1
PMID 9042911 1997 Molecular investigation of UMP synthase deficiency in a Japanese orotic aciduria patient revealed mutations R96G (A-to-G transition; nt 286) and G429R (G-to-C transversion; nt 1285) in one allele and V109G (T-to-G transversion; nt 326) in the other allele.