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Gene entry

PAPSS2

3'-phosphoadenosine 5'-phosphosulfate synthase 2

Chromosome
10
Cytoband
10q23.2-q23.31
Variants (rsID)
30

PAPSS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q23.2-q23.31). Its official name is “3'-phosphoadenosine 5'-phosphosulfate synthase 2”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs45467596Benignsingle nucleotide variantSpondyloepimetaphyseal dysplasia, PAPSS2 type
  • rs138943074Conflicting interpretationssingle nucleotide variantSpondyloepimetaphyseal dysplasia, PAPSS2 type
  • rs121908952Pathogenicsingle nucleotide variantSpondyloepimetaphyseal dysplasia, PAPSS2 type|Autosomal recessive brachyolmia

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.