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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1303||Coat colour, oculocutaneous albinism||TYR||albino - pet trade||nonsense (stop-gain)||Naturally occurring variant||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