PMID: 31714577

MC1R and KIT Haplotypes Associate With Pigmentation Phenotypes of North American Yak (Bos grunniens).

The Journal of heredity
JL Petersen, TS Kalbfleisch, M Parris, SM Tietze, J Cruickshank
2020-04-02

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-134322763-G-A KY c.1644C>T p.Tyr548Tyr Synonymous 11/11 -
8-133899261-T-C TG c.1644T>C p.Thr548Thr Synonymous 9/48 -
9-12693735-G-A TYRP1 c.1-262G>A - IntronicSNV - 1/7
16-89985561-C-T MC1R c.1-106C>T - 5-UTRSNV 1/1 -
16-89986308-C-G MC1R c.642C>G p.Ala214Ala Synonymous 1/1 -
4-55565839-T-C KIT c.663T>C p.Tyr221Tyr Synonymous 4/21 -
16-89985962-T-C MC1R c.296T>C p.Leu99Pro Missense 1/1 -
8-133899516-C-A TG c.1899C>A p.Ser633Ser Synonymous 9/48 -
4-55561787-T-C KIT c.177T>C p.Thr59Thr Synonymous 2/21 -
4-55561787-T-A KIT c.177T>A p.Thr59Thr Synonymous 2/21 -
4-55561787-T-G KIT c.177T>G p.Thr59Thr Synonymous 2/21 -
16-89986041-C-T MC1R c.375C>T p.Cys125Cys Synonymous 1/1 -
12-56355416-G-A PMEL c.177C>T p.Asp59Asp Synonymous 3/12 -
16-89986537-G-A MC1R c.871G>A p.Ala291Thr Missense 1/1 -
4-55564696-T-C KIT c.584T>C p.Val195Ala Missense 3/21 -
16-89986006-C-A MC1R c.340C>A p.Gln114Lys Missense 1/1 -
16-89985977-GG-G MC1R c.311delG p.Gly104Valfs*19 Frameshift 1/1 -
4-55604714-C-T KIT c.2922C>T p.Asp974Asp Synonymous 21/21 -