Gene entry
CTPS1
CTP synthase 1
- Chromosome
- 1
- Cytoband
- 1p34.2
- Variants (rsID)
- 8
CTPS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.2). Its official name is “CTP synthase 1”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs145092287Pathogenicsingle nucleotide variantSevere combined immunodeficiency due to CTPS1 deficiency
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.