OMIA 000202-31143 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Elaphe climacophora
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||Elaphe climacophora||-||no genomic information (-..-)||TYR||Ensembl|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Coat colour, oculocutaneous albinism||TYR||albino - pet trade||nonsense (stop-gain)||c.895C>T||p.(R299X)||2018||30158334|
|2018||Iwanishi, S., Zaitsu, S., Shibata, H., Nitasaka, E. :|
|An albino mutant of the Japanese rat snake (Elaphe climacophora) carries a nonsense mutation in the tyrosinase gene. Genes Genet Syst 93:163-167, 2018. Pubmed reference: 30158334. DOI: 10.1266/ggs.18-00021.|
- Created by Imke Tammen2 on 07 Apr 2021
- Changed by Imke Tammen2 on 07 Apr 2021
- Changed by Imke Tammen2 on 09 Apr 2021