Ensembl ID:
ZDB-GENE-991026-3, ZDB-GENE-991026-3
tyrosinase [Source:RefSeq peptide;Acc:NP_571088]
Human Orthologue:
Human Description:
tyrosinase (oculocutaneous albinism IA) [Source:HGNC Symbol;Acc:12442]
Mouse Orthologue:
Mouse Description:
tyrosinase Gene [Source:MGI Symbol;Acc:MGI:98880]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa3924 Nonsense 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.
A > T
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057067 Nonsense 145 537 2 6
ENSDART00000122238 Nonsense 142 534 1 5
Genomic Location:
Chromosome 15 (position 42573025)
KASP Assay ID:
None (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:

  • Age-related macular degeneration: Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. (View Study)
  • Hair color: Web-based, participant-driven studies yield novel genetic associations for common traits. (View Study)
  • Melanoma: Genome-wide association study identifies three loci associated with melanoma risk. (View Study)
  • Melanoma: Genome-wide association study identifies three new melanoma susceptibility loci. (View Study)
  • Skin pigmentation: A genomewide association study of skin pigmentation in a South Asian population. (View Study)
  • Skin sensitivity to sun: Genetic determinants of hair, eye and skin pigmentation in Europeans. (View Study)
  • Tanning: Genome-wide association study of tanning phenotype in a population of European ancestry. (View Study)
  • Vitiligo: Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. (View Study)
  • Vitiligo: Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)


If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/61g70jye