MC1R c.250G>A ;(p.D84N)

Variant ID: 16-89985916-G-A

NM_002386.3(MC1R):c.250G>A;(p.D84N)

This variant was identified in 7 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: D84N
PubMed Link: 36140807
Variant Present in the following documents:
  • Main text
  • genes-13-01641.pdf
View BVdb publication page



MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific Reports
Smit, Amelia K AK; Collazo-Roman, Marielys M; Vadaparampil, Susan T ST; Valavanis, Stella S; Del Rio, Jocelyn J; Soto, Brenda B; Flores, Idhaliz I; Dutil, Julie J; Kanetsky, Peter A PA
Publication Date: 2020-04-29

Variant appearance in text: MC1R: D84N; rs538777064
PubMed Link: 32350296
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_64019.pdf
View BVdb publication page



Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Nature Communications
Morgan, Michael D MD; Pairo-Castineira, Erola E; Rawlik, Konrad K; Canela-Xandri, Oriol O; Rees, Jonathan J; Sims, David D; Tenesa, Albert A; Jackson, Ian J IJ
Publication Date: 2018-12-10

Variant appearance in text: MC1R: Asp84Asn
PubMed Link: 30531825
Variant Present in the following documents:
  • 41467_2018_Article_7691.pdf
View BVdb publication page



Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.

Plos One
Langevin, Mary M; Synkova, Helena H; Jancuskova, Tereza T; Pekova, Sona S
Publication Date: 2018

Variant appearance in text: MC1R: 250G>A
PubMed Link: 30235206
Variant Present in the following documents:
  • Main text
  • pone.0198536.pdf
View BVdb publication page



SNP Miniplexes for Individual Identification of Random-Bred Domestic Cats.

Journal Of Forensic Sciences
Brooks, Ashley A; Creighton, Erica K EK; Gandolfi, Barbara B; Khan, Razib R; Grahn, Robert A RA; Lyons, Leslie A LA
Publication Date: 2016-05

Variant appearance in text: MC1R: 250G>A
PubMed Link: 27122395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing in domestic cats.

Molecular And Cellular Probes
Lyons, Leslie A LA
Publication Date: 2012-12

Variant appearance in text: MC1R: 250G>A
PubMed Link: 22546621
Variant Present in the following documents:
  • Main text
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: D84N
PubMed Link: 20015355
Variant Present in the following documents:
  • Main text
  • 1756-0500-2-255.pdf
View BVdb publication page