Skip to content
Use your HSA or FSA funds

Gene

PTDSS1

phosphatidylserine synthase 1

Summary

Cytogenetic location
8q22.1
Coordinates
Chromosome 8: 96,261,902–96,336,995 (GRCh38)
Exons
13 exons across 75.1 kb
Protein
473 amino acids
Also known as
KIAA0024, PSSA, PSS1
MANE Select transcript
ENST00000517309.6NM_014754.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads PTDSS1 yet. The test sequences your whole genome, so your data includes it all the same.

How PTDSS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where PTDSS1 sits. PTDSS1 and 5 genes near it on chromosome 8, from 95,799,449 to 96,799,448.Chromosome 88q22.1p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.395.8 Mb96 Mb96.2 Mb96.4 Mb96.6 MbGDF6: 96,142,333–96,160,813, reverse strandGDF6UQCRB: 96,222,947–96,235,621, reverse strandUQCRBMTERF3: 96,238,162–96,261,626, reverse strandMTERF3PTDSS1: 96,261,902–96,336,995, forward strandPTDSS1SDC2: 96,493,410–96,613,465, forward strandSDC2CPQ: 96,644,982–97,152,036, forward strandCPQDiagram of PTDSS1: 13 exons on the forward strand of chromosome 8Exon 3: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 96,261,902–96,262,219, 318 basesExon 2: 96,273,299–96,273,390, 92 basesExon 3: 96,284,109–96,284,153, 45 basesExon 4: 96,287,022–96,287,146, 125 basesExon 5: 96,295,098–96,295,256, 159 basesExon 6: 96,299,694–96,299,845, 152 basesExon 7: 96,304,040–96,304,181, 142 basesExon 8: 96,306,444–96,306,556, 113 basesExon 9: 96,309,557–96,309,622, 66 basesExon 10: 96,320,246–96,320,345, 100 basesExon 11: 96,330,213–96,330,281, 69 basesExon 12: 96,331,026–96,331,095, 70 basesExon 13: 96,333,457–96,336,995, 3,539 bases124681012135′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5 kb of the gene's 75.1 kb; 1,422 of those bases code for the protein.

How a genome test reads PTDSS1

3

positions in PTDSS1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 75.1 kb of PTDSS1, introns included, not only the 5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PTDSS1 gene: phosphatidylserine synthase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ptdss1

Vancouver

Dante Labs. PTDSS1 gene: phosphatidylserine synthase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ptdss1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test