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Gene

SEPHS1

selenophosphate synthetase 1

Summary

Cytogenetic location
10p13
Coordinates
Chromosome 10: 13,317,428–13,348,293 (GRCh38)
Exons
9 exons across 30.9 kb
Protein
392 amino acids
Also known as
SPS, SPS1
MANE Select transcript
ENST00000327347.10NM_012247.5
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 SEPHS1 yet. The test sequences your whole genome, so your data includes it all the same.

How SEPHS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where SEPHS1 sits. SEPHS1 and 9 genes near it on chromosome 10, from 12,832,861 to 13,832,860.Chromosome 1010p13p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.313 Mb13.2 Mb13.4 Mb13.6 Mb13.8 MbCAMK1D: 12,349,513–12,835,545, forward strandCAMK1DCCDC3: 12,896,625–13,099,652, reverse strandCCDC3OPTN: 13,099,442–13,159,480, forward strandOPTNMCM10: 13,161,526–13,211,110, forward strandMCM10UCMA: 13,220,609–13,234,428, reverse strandUCMAPHYH: 13,276,854–13,302,412, reverse strandPHYHSEPHS1: 13,317,428–13,348,293, reverse strandSEPHS1BEND7: 13,438,484–13,529,287, reverse strandBEND7PRPF18: 13,586,922–13,668,445, forward strandPRPF18FRMD4A: 13,643,706–14,462,142, reverse strandFRMD4ADiagram of SEPHS1: 9 exons on the reverse strand of chromosome 10Exon 9: 1 known disease-causing siteExon 9: 13,317,428–13,319,356, 1,929 basesExon 8: 13,322,835–13,323,047, 213 basesExon 7: 13,328,351–13,328,450, 100 basesExon 6: 13,329,698–13,329,788, 91 basesExon 5: 13,333,817–13,333,971, 155 basesExon 4: 13,336,243–13,336,350, 108 basesExon 3: 13,338,705–13,338,808, 104 basesExon 2: 13,344,758–13,345,028, 271 basesExon 1: 13,348,000–13,348,293, 294 bases9876543215′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 3.3 kb of the gene's 30.9 kb; 1,179 of those bases code for the protein.

How a genome test reads SEPHS1

1

position in SEPHS1 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (100%) falls in a region short reads find hard.

  • Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 30.9 kb of SEPHS1, introns included, not only the 3.3 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.). SEPHS1 gene: selenophosphate synthetase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/sephs1

Vancouver

Dante Labs. SEPHS1 gene: selenophosphate synthetase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sephs1

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