GEPHE SUMMARY Print
Gephebase Gene
tyrosinase (TYR)
Entry Status
Published
GepheID
GP00002317
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Morphology
Trait
Coloration (coat)
Trait State in Taxon A
WT
Trait State in Taxon B
Complete albinism
Ancestral State
Taxon A
Taxonomic Status
Domesticated
Taxon A
Latin Name
Cavia porcellus
Common Name
domestic guinea pig
Synonyms
Cavia aperea porcellus; Cavia cobaya; domestic guinea pig; guinea pig; Cavia cobya
Rank
species
Lineage
Show more ... omata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Hystricomorpha; Caviidae; Cavia
Parent
Cavia (guinea pigs) - (Rank: genus)
NCBI Taxonomy ID
10141
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Cavia porcellus
Common Name
domestic guinea pig
Synonyms
Cavia aperea porcellus; Cavia cobaya; domestic guinea pig; guinea pig; Cavia cobya
Rank
species
Lineage
Show more ... omata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Hystricomorpha; Caviidae; Cavia
Parent
Cavia (guinea pigs) - (Rank: genus)
NCBI Taxonomy ID
10141
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Tyr
Synonyms
c; Oca1; skc35; albino
String
10090.ENSMUSP00000004770
Sequence Similarities
Belongs to the tyrosinase family.
GO - Molecular Function
GO:0042803 : protein homodimerization activity ... show more
GO - Biological Process
GO:0042438 : melanin biosynthetic process ... show more
GO - Cellular Component
GO:0016021 : integral component of membrane ... show more
UniProtKB
Mus musculus
P11344
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Coding
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.710A>G p.Asp237Gly
Experimental Evidence
Candidate Gene
Taxon A Taxon B Position
Codon - - -
Amino-acid Asp Gly 237
Main Reference
Conserved aspartate-to-glycine mutation in tyrosinase is associated with albino phenotype in domestic guinea pigs (Cavia porcellus). (2018)
Authors
Yu F; Jiao S; Lai W; Liu Z; Zhu M; Zhu W; Bai C; Zhang Y; et al. ... show more
Abstract
-
Additional References
RELATED GEPHE
Related Genes
1 (MC1R)
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@Parallelism https://omia.org/OMIA000202/10141/
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