Variant ID: 16-89985861-G-T

NM_002386.3(MC1R):c.195G>T;(p.Lys65Asn)

This variant was identified in 3 publications




Publications:


MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.

Pigment Cell & Melanoma Research
JC García-Borrón, Z Abdel-Malek, C Jiménez-Cervantes
Publication Date: 2014-09

Variant appearance in text: MC1R: 195G>T; Lys65Asn
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Genetic variations associated with red hair color and fear of dental pain, anxiety regarding dental care and avoidance of dental care.

Journal Of The American Dental Association (1939)
CJ Binkley, A Beacham, W Neace, RG Gregg, EB Liem, DI Sessler
Publication Date: 2009-07

Variant appearance in text: N/A
PubMed Link: 19571053
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.

Human Molecular Genetics
NF Box, JR Wyeth, LE O'Gorman, NG Martin, RA Sturm
Publication Date: 1997-10

Variant appearance in text: N/A
PubMed Link: 9302268
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.541G>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.195G>T p.Lys65Asn missense_variant 1/1 -
ENST00000555427.1 c.195G>T p.Lys65Asn missense_variant 3/4 -
ENST00000556922.1 c.195G>T p.Lys65Asn missense_variant 1/5 -
NM_002386.3 c.195G>T p.Lys65Asn missense_variant 1/1 -