Variant ID: 16-89985222-G-A

NM_002386.3(MC1R):c.-445G>A

This variant was identified in 5 publications




Publications:


A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics
K Zorina-Lichtenwalter, RN Lichtenwalter, DV Zaykin, M Parisien, S Gravel, A Bortsov, L Diatchenko
Publication Date: 2019-06-15

Variant appearance in text: rs3212361
PubMed Link: 30657907
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.

Nature Genetics
S Kohsaka, N Shukla, N Ameur, T Ito, CK Ng, L Wang, D Lim, A Marchetti, A Viale, M Pirun, ND Socci, LX Qin, R Sciot, J Bridge, S Singer, P Meyers, LH Wexler, FG Barr, S Dogan, JA Fletcher, JS Reis-Filho, M Ladanyi
Publication Date: 2014-06

Variant appearance in text: rs3212361
PubMed Link: 24793135
PubMed Central Link
Variant Present in the following documents:
  • NIHMS635209-supplement-Table_3.xlsx
View BVdb publication page



Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Bmc Genetics
J Mengel-From, TH Wong, N Morling, JL Rees, IJ Jackson
Publication Date: 2009-12-30

Variant appearance in text: rs3212361
PubMed Link: 20042077
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

The Journal Of Investigative Dermatology
DL Duffy, ZZ Zhao, RA Sturm, NK Hayward, NG Martin, GW Montgomery
Publication Date: 2010-02

Variant appearance in text: rs3212361
PubMed Link: 19710684
PubMed Central Link
Variant Present in the following documents:
  • NIHMS468845-supplement-supplementary_data.doc
View BVdb publication page



Catalog of 300 SNPs in 23 genes encoding G-protein coupled receptors.

Journal Of Human Genetics
A Iida, S Saito, A Sekine, Y Kataoka, W Tabei, Y Nakamura
Publication Date: 2004

Variant appearance in text: rs3212361
PubMed Link: 15042431
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000555147.1 c.-445G>A - 5_prime_UTR_variant 1/1 -
ENST00000555427.1 c.-408-37G>A - intron_variant - 2/3
NM_002386.3 c.-445G>A - 5_prime_UTR_variant 1/1 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -