Gene entry
OXCT1
3-oxoacid CoA-transferase 1
- Chromosome
- 5
- Cytoband
- 5p13.1
- Variants (rsID)
- 18
OXCT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p13.1). Its official name is “3-oxoacid CoA-transferase 1”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs75134564Benignsingle nucleotide variantSuccinyl-CoA acetoacetate transferase deficiency
- rs267606930Othersingle nucleotide variantSuccinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
- rs121909301Pathogenicsingle nucleotide variantSuccinyl-CoA acetoacetate transferase deficiency
- rs121909303Uncertain significancesingle nucleotide variantSuccinyl-CoA acetoacetate transferase 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.