Variant ID: 16-89985914-CG-TT

NM_002386.3(MC1R):c.248_249delinsTT;(p.Ser83Phe)

This variant was identified in 6 publications




Publications:


Comprehensive genetic testing combined with citizen science reveals a recently characterized ancient MC1R mutation associated with partial recessive red phenotypes in dog.

Canine Medicine And Genetics
H Anderson, L Honkanen, P Ruotanen, J Mathlin, J Donner
Publication Date: 2020-11-05

Variant appearance in text: MC1R: S83F
PubMed Link: 33292722
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Genes
LJ Corbin, J Pope, J Sanson, DF Antczak, D Miller, R Sadeghi, SA Brooks
Publication Date: 2020-05-30

Variant appearance in text: MC1R: S83F
PubMed Link: 32486210
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
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
F Alshanbari, C Castaneda, R Juras, A Hillhouse, MN Mendoza, GA Gutiérrez, FA Ponce de León, T Raudsepp
Publication Date: 2019

Variant appearance in text: MC1R: Ser83Phe
PubMed Link: 31040864
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

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



Identification of horse chestnut coat color genotype using SNaPshot.

Bmc Research Notes
F Rendo, M Iriondo, C Manzano, A Estonba
Publication Date: 2009-12-16

Variant appearance in text: MC1R: S83F
PubMed Link: 20015355
PubMed Central Link
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
E Brunberg, L Andersson, G Cothran, K Sandberg, S Mikko, G Lindgren
Publication Date: 2006-10-09

Variant appearance in text: MC1R: Ser83Phe
PubMed Link: 17029645
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.594_595delinsTT - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.248_249delinsTT p.Ser83Phe missense_variant 1/1 -
ENST00000555427.1 c.248_249delinsTT p.Ser83Phe missense_variant 3/4 -
ENST00000556922.1 c.248_249delinsTT p.Ser83Phe missense_variant 1/5 -
NM_002386.3 c.248_249delinsTT p.Ser83Phe missense_variant 1/1 -