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Gene

ASPH

aspartate beta-hydroxylase

Summary

Cytogenetic location
8q12.3
Coordinates
Chromosome 8: 61,500,556–61,714,592 (GRCh38)
Exons
25 exons across 214 kb
Protein
758 amino acids
Also known as
CASQ2BP1, BAH, JCTN, HAAH
MANE Select transcript
ENST00000379454.9NM_004318.4
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 ASPH yet. The test sequences your whole genome, so your data includes it all the same.

How ASPH 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 ASPH sits. ASPH and 1 gene near it on chromosome 8, from 61,107,574 to 62,107,573.Chromosome 88q12.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.361.2 Mb61.4 Mb61.6 Mb61.8 Mb62 MbCLVS1: 61,057,158–61,501,645, forward strandCLVS1ASPH: 61,500,556–61,714,592, reverse strandASPHDiagram of ASPH: 25 exons on the reverse strand of chromosome 8Exon 25: 2 known disease-causing sitesExon 23: 1 known disease-causing siteExon 22: 2 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 25: 61,500,556–61,503,509, 2,954 basesExon 24: 61,517,528–61,517,661, 134 basesExon 23: 61,518,032–61,518,123, 92 basesExon 22: 61,525,977–61,526,112, 136 basesExon 21: 61,548,071–61,548,208, 138 basesExon 20: 61,553,031–61,553,120, 90 basesExon 19: 61,555,924–61,556,022, 99 basesExon 18: 61,562,744–61,562,880, 137 basesExon 17: 61,567,168–61,567,318, 151 basesExon 16: 61,576,772–61,576,858, 87 basesExon 15: 61,583,944–61,584,029, 86 basesExon 14: 61,618,978–61,619,019, 42 basesExon 13: 61,633,683–61,633,727, 45 basesExon 12: 61,637,947–61,638,003, 57 basesExon 11: 61,638,322–61,638,363, 42 basesExon 10: 61,642,888–61,642,920, 33 basesExon 9: 61,643,386–61,643,433, 48 basesExon 8: 61,643,945–61,644,001, 57 basesExon 7: 61,644,600–61,644,632, 33 basesExon 6: 61,646,750–61,646,878, 129 basesExon 5: 61,651,050–61,651,124, 75 basesExon 4: 61,653,568–61,653,660, 93 basesExon 3: 61,680,968–61,681,036, 69 basesExon 2: 61,684,039–61,684,188, 150 basesExon 1: 61,714,269–61,714,592, 324 bases25201510515′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 5.3 kb of the gene's 214 kb; 2,277 of those bases code for the protein.

How a genome test reads ASPH

17

positions in ASPH 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 214 kb of ASPH, introns included, not only the 5.3 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.). ASPH gene: aspartate beta-hydroxylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/asph

Vancouver

Dante Labs. ASPH gene: aspartate beta-hydroxylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/asph

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