Variant ID: 16-89986020-T-C

NM_002386.3(MC1R):c.354T>C;(p.Asn118Asn)

This variant was identified in 2 publications




Publications:


Genetic Variation in Coat Colour Genes MC1R and ASIP Provides Insights Into Domestication and Management of South American Camelids.

Frontiers In Genetics
JC Marín, R Rivera, V Varas, J Cortés, A Agapito, A Chero, A Chávez, WE Johnson, P Orozco-terWengel
Publication Date: 2018

Variant appearance in text: MC1R: N118N
PubMed Link: 30483307
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The alpaca melanocortin 1 receptor: gene mutations, transcripts, and relative levels of expression in ventral skin biopsies.

Thescientificworldjournal
B Chandramohan, C Renieri, V La Manna, A La Terza
Publication Date: 2015

Variant appearance in text: MC1R: 354T>C
PubMed Link: 25685836
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.700T>C - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.354T>C p.Asn118= synonymous_variant 1/1 -
ENST00000555427.1 c.354T>C p.Asn118= synonymous_variant 3/4 -
ENST00000556922.1 c.354T>C p.Asn118= synonymous_variant 1/5 -
NM_002386.3 c.354T>C p.Asn118= synonymous_variant 1/1 -