OMIA 002124-9796 : Coat colour, albinism, oculocutaneous type VI in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC24A5||solute carrier family 24 (sodium/potassium/calcium exchanger), member 5||Equus caballus||1||NC_009144.3 (142739110..142718600)||SLC24A5||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|Paso Fino||Tiger eye||SLC24A5||Tiger-eye 2||deletion, gross (>20)||EquCab2||1||g.141660611_141661239del||c.875-340_1081+82del||2017||28655738|
|Paso Fino||Tiger eye||SLC24A5||Tiger-eye 1||missense||EquCab2||1||g.141677402A>T||c.272A>T||p.Phe91Tyr||2017||28655738||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2017||Mack, M., Kowalski, E., Grahn, R., Bras, D., Penedo, M.C.T., Bellone, R. :|
|Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses. G3 (Bethesda) 7:2799-2806, 2017. Pubmed reference: 28655738. DOI: 10.1534/g3.117.043786.|
|2011||Kowalski, E.J.A., Bellone, R.R. :|
|Investigation of HERC2 and OCA2 SNP for iris color variation in puerto rican paso fino horses Journal of Equine Veterinary Science 31:319, 2011. DOI: 10.1016/j.jevs.2011.03.154.|
- Created by Frank Nicholas on 02 Sep 2017
- Changed by Frank Nicholas on 02 Sep 2017