PMID: 22854540

Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

Journal of human genetics
K Yamaguchi, C Watanabe, A Kawaguchi, T Sato, I Naka, M Shindo, K Moromizato, K Aoki, H Ishida, R Kimura
2012-11-26

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986527-C-G MC1R c.861C>G p.Ile287Met Missense 1/1 -
2-9634856-A-G ADAM17 c.1824T>C p.Ser608Ser Synonymous 15/19 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89986353-C-G MC1R c.687C>G p.Arg229Arg Synonymous 1/1 -
2-109513601-A-G EDAR c.1109T>C p.Val370Ala Missense 12/12 -
16-89985996-T-A MC1R c.330T>A p.Ala110Ala Synonymous 1/1 -
16-89986032-G-A MC1R c.366G>A p.Val122Val Synonymous 1/1 -
16-89986353-C-T MC1R c.687C>T p.Arg229Arg Synonymous 1/1 -
16-89985996-T-C MC1R c.330T>C p.Ala110Ala Synonymous 1/1 -
16-89985996-T-G MC1R c.330T>G p.Ala110Ala Synonymous 1/1 -
16-89986353-C-A MC1R c.687C>A p.Arg229Arg Synonymous 1/1 -
16-89986025-T-C MC1R c.359T>C p.Ile120Thr Missense 1/1 -
16-89986032-G-C MC1R c.366G>C p.Val122Val Synonymous 1/1 -
16-89985855-C-T MC1R c.189C>T p.Ile63Ile Synonymous 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
16-89985881-C-T MC1R c.215C>T p.Pro72Leu Missense 1/1 -
16-89986326-C-T MC1R c.660C>T p.Gly220Gly Synonymous 1/1 -
16-89985855-C-A MC1R c.189C>A p.Ile63Ile Synonymous 1/1 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986084-G-A MC1R c.418G>A p.Val140Met Missense 1/1 -
16-89985866-G-A MC1R c.200G>A p.Arg67Gln Missense 1/1 -