OMIA 002114-9913 : Hypotrichosis, KRT71-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KRT71||keratin 71, type II||Bos taurus||5||NC_037332.1 (27330888..27339248)||KRT71||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|
|Hereford||Hypotrichosis, KRT71-related||KRT71||deletion, small (<=20)||UMD3.1||5||g.27505486delTGTGCCCA||c.334delTGTGCCCA||p.Met93AsnfsX14||2010||Reference not in PubMed; see OMIA 002114-9913 for reference details||Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
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.
|2016||McClure, M.C., McClure, J. :|
|Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition) https://www.icbf.com/wp/?page_id=2170 :, 2016.|
|2010||Markey, A.D., Taylor, J.F., Schnabel, R.D., McKay, S.D., McClure, M.C., Beever, J.E.. :|
|A Deletion Mutation in Krt71 is Associated with Congenital Hypotrichosis in Hereford Cattle. Plant & Animal Genomes XVIII Conference, San Diego, 9-13 January 2010 :552, 2010.|
- Created by Frank Nicholas on 21 Jul 2017