Gene entry
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
- Chromosome
- 4
- Cytoband
- 4p15.2
- Variants (rsID)
- 8
SEPSECS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p15.2). Its official name is “Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs3733548Benignsingle nucleotide variant
- rs61747281Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 2D
- rs267607035Pathogenicsingle nucleotide variantPontocerebellar hypoplasia type 2D|Pontoneocerebellar hypoplasia
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.
