MC1R c.248_249delinsTT ;(p.S83F)

Variant ID: 16-89985914-CG-TT

NM_002386.3(MC1R):c.248_249delinsTT;(p.S83F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds.

Genes
Avila, Felipe F; Hughes, Shayne S SS; Magdesian, K Gary KG; Penedo, Maria Cecilia Torres MCT; Bellone, Rebecca R RR
Publication Date: 2022-09-13

Variant appearance in text: MC1R: S83F
PubMed Link: 36140807
Variant Present in the following documents:
  • Main text
  • genes-13-01641.pdf
View BVdb publication page



An Independent Locus Upstream of ASIP Controls Variation in the Shade of the Bay Coat Colour in Horses.

Genes
Corbin, Laura J LJ; Pope, Jessica J; Sanson, Jacqueline J; Antczak, Douglas F DF; Miller, Donald D; Sadeghi, Raheleh R; Brooks, Samantha A SA
Publication Date: 2020-05-30

Variant appearance in text: MC1R: S83F
PubMed Link: 32486210
Variant Present in the following documents:
  • Main text
  • genes-11-00606.pdf
View BVdb publication page



Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Analysis With Coat Color Phenotypes in the Dromedary (Camelus dromedarius).

Frontiers In Genetics
Alshanbari, Fahad F; Castaneda, Caitlin C; Juras, Rytis R; Hillhouse, Andrew A; Mendoza, Mayra N MN; Gutiérrez, Gustavo A GA; Ponce de León, Federico Abel FA; Raudsepp, Terje T
Publication Date: 2019

Variant appearance in text: MC1R: Ser83Phe
PubMed Link: 31040864
Variant Present in the following documents:
  • Main text
  • fgene-10-00340.pdf
View BVdb publication page



Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.

Journal Of Applied Genetics
Switonski, M M; Mankowska, M M; Salamon, S S
Publication Date: 2013-11

Variant appearance in text: MC1R: Ser83Phe
PubMed Link: 23996627
Variant Present in the following documents:
  • Main text
  • 13353_2013_Article_163.pdf
View BVdb publication page



Identification of horse chestnut coat color genotype using SNaPshot.

Bmc Research Notes
Rendo, Fernando F; Iriondo, Mikel M; Manzano, Carmen C; Estonba, Andone A
Publication Date: 2009-12-16

Variant appearance in text: MC1R: S83F
PubMed Link: 20015355
Variant Present in the following documents:
  • Main text
View BVdb publication page



A missense mutation in PMEL17 is associated with the Silver coat color in the horse.

Bmc Genetics
Brunberg, Emma E; Andersson, Leif L; Cothran, Gus G; Sandberg, Kaj K; Mikko, Sofia S; Lindgren, Gabriella G
Publication Date: 2006-10-09

Variant appearance in text: MC1R: Ser83Phe
PubMed Link: 17029645
Variant Present in the following documents:
  • Main text
  • 1471-2156-7-46.pdf
View BVdb publication page