GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002316
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
WT
Trait State in Taxon B
Complete albinism
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
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nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
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nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Tyr
Synonyms
c; Oca1; skc35; albino
String
Sequence Similarities
Belongs to the tyrosinase family.
GO - Molecular Function
GO:0042803 : protein homodimerization activity
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GO - Biological Process
GO:0042438 : melanin biosynthetic process
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GO - Cellular Component
GO:0016021 : integral component of membrane
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.1118C>A p.T373K (also causes albinism in humans)
Experimental Evidence
| Taxon A | Taxon B | Position | |
|---|---|---|---|
| Codon | - | - | - |
| Amino-acid | Tyr | Lys | 373 |
Main Reference
Authors
Aigner B; Besenfelder U; Müller M; Brem G
Abstract
-
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@Parallelism https://omia.org/OMIA000202/9986/
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