Gene entry
UMPS
uridine monophosphate synthetase
- Chromosome
- 3
- Cytoband
- 3q21.2
- Variants (rsID)
- 10
UMPS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q21.2). Its official name is “uridine monophosphate synthetase”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs17843776Benignsingle nucleotide variantOrotic aciduria|Hereditary orotic aciduria, type 1
- rs1801019Benignsingle nucleotide variantOrotic aciduria|Hereditary orotic aciduria, type 1
- rs2279199Benignsingle nucleotide variantOrotic aciduria
- rs2291078Benignsingle nucleotide variantOrotic aciduria|Hereditary orotic aciduria, type 1
- rs3772809Benignsingle nucleotide variantOrotic aciduria|Hereditary orotic aciduria, type 1
- rs3772810Benignsingle nucleotide variantOrotic aciduria|Hereditary orotic aciduria, type 1
- rs121917890Likely benignsingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
