OMIA 002130-9615 : Coat colour, oculocutaneous albinism, OCA2-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|OCA2||oculocutaneous albinism II||Canis lupus familiaris||3||NC_006585.3 (32361825..32713631)||OCA2||Homologene, Ensembl, NCBI gene|
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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|
|German Spitz||Coat colour, oculocutaneous albinism, OCA2-related||OCA2||splicing||CanFam3.1||3||g.31715704A>C||"LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G) . . . Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1)."||2017||28973042|
|2017||Caduff, M., Bauer, A., Jagannathan, V., Leeb, T. :|
|OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. PLoS One 12:e0185944, 2017. Pubmed reference: 28973042. DOI: 10.1371/journal.pone.0185944.|
- Created by Tosso Leeb on 10 Oct 2017
- Changed by Tosso Leeb on 10 Oct 2017
- Changed by Frank Nicholas on 11 Oct 2017