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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.