Ensembl ID:
Cytochrome P450 19A1a [Source:UniProtKB/Swiss-Prot;Acc:O42145]
Human Orthologue:
Human Description:
cytochrome P450, family 19, subfamily A, polypeptide 1 [Source:HGNC Symbol;Acc:2594]
Mouse Orthologue:
Mouse Description:
cytochrome P450, family 19, subfamily a, polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:88587]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7241 Essential Splice Site Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
We currently estimate that this allele will be available during 2015.
G > A
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124001 Essential Splice Site 247 481 6 9
ENSDART00000129828   282 517 6 9
Genomic Location:
Chromosome 18 (position 38061678)
KASP Assay ID:
554-5262.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
Associated Phenotype:
Not determined


This gene's human homologue has been identified in the following GWAS studies:

  • Height: A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (View Study)
  • Height: Genome-wide association study in Han Chinese identifies three novel loci for human height. (View Study)
  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (View Study)
  • T-tau: Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study. (View Study)
  • Testosterone levels: Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. (View Study)
  • Thiazide-induced adverse metabolic effects in hypertensive patients: Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. (View Study)

(GWAS data comes from


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