OMIA 001821-9913 : Coat colour, albinism, oculocutaneous type IV in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC45A2||solute carrier family 45 member 2||Bos taurus||20||NC_037347.1 (39789279..39827992)||SLC45A2||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|
|Braunvieh||Coat colour, albinism, oculocutaneous type IV||SLC45A2||missense||UMD3.1||20||g.39829806G>A||c.134G>A||p.R45Q||Important note by Rothammer et al. (2017): "To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely"||2017||28982372||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|Braunvieh||Coat colour, albinism, oculocutaneous type IV||SLC45A2||missense||UMD3.1||20||g.39864148C>T||c.1331C>T||p.T444I||Important note by Rothammer et al. 92017): "To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely"||2017||28982372||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.
|2020||Bhati, M., Kadri, N.K., Crysnanto, D., Pausch, H. :|
|Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. BMC Genomics 21:27, 2020. Pubmed reference: 31914939. DOI: 10.1186/s12864-020-6446-y.|
|2017||Rothammer, S., Kunz, E., Seichter, D., Krebs, S., Wassertheurer, M., Fries, R., Brem, G., Medugorac, I. :|
|Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. Genet Sel Evol 49:73, 2017. Pubmed reference: 28982372. DOI: 10.1186/s12711-017-0349-7.|
- Created by Frank Nicholas on 11 Oct 2017
- Changed by Frank Nicholas on 11 Oct 2017