OMIA 002164-9925 : Coat colour, white spotting, EDNRA-related in Capra hircus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EDNRA||endothelin receptor type A||Capra hircus||17||NC_030824.1 (60218131..60292066)||EDNRA||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|
|Coat colour, white spotting, EDNRA-related||EDNRA||repeat variation||"a 1Mb copy number variant (CNV) harboring 5 genes including EDNRA. The analysis of 358 Boer goats revealed 3 alleles with one, two, and three copies of this CNV. The copy number is correlated with the degree of white spotting in goats"||2016||27329507|
|2016||Menzi, F., Keller, I., Reber, I., Beck, J., Brenig, B., Schütz, E., Leeb, T., Drögemüller, C. :|
|Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation. Sci Rep 6:28438, 2016. Pubmed reference: 27329507. DOI: 10.1038/srep28438.|
- Created by Frank Nicholas on 05 Feb 2019