PMID: 18402696

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

BMC genetics
SA Savage, MR Gerstenblith, AM Goldstein, L Mirabello, MC Fargnoli, K Peris, MT Landi
2008-04-10

67 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89985816-G-C MC1R c.150G>C p.Leu50Leu Synonymous 1/1 -
16-89985816-G-A MC1R c.150G>A p.Leu50Leu Synonymous 1/1 -
16-89985816-G-T MC1R c.150G>T p.Leu50Leu Synonymous 1/1 -
16-89986409-G-T MC1R c.743G>T p.Gly248Val Missense 1/1 -
16-89986566-C-T MC1R c.900C>T p.Phe300Phe Synonymous 1/1 -
11-64012744-C-T PPP1R14B c.274G>A p.Glu92Lys Missense 2/4 -
16-89986356-G-A MC1R c.690G>A p.Pro230Pro Synonymous 1/1 -
16-89985914-C-T MC1R c.248C>T p.Ser83Leu Missense 1/1 -
16-89986178-C-A MC1R c.512C>A p.Ala171Asp Missense 1/1 -
16-89986145-G-A MC1R c.479G>A p.Arg160Gln Missense 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89986164-G-A MC1R c.498G>A p.Ala166Ala Synonymous 1/1 -
16-89986164-G-C MC1R c.498G>C p.Ala166Ala Synonymous 1/1 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89985806-G-T MC1R c.140G>T p.Ser47Ile Missense 1/1 -
16-89986485-C-T MC1R c.819C>T p.Cys273Cys Synonymous 1/1 -
16-89985961-C-A MC1R c.295C>A p.Leu99Ile Missense 1/1 -
16-89985718-C-G MC1R c.52C>G p.Pro18Ala Missense 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -
16-89986445-A-C MC1R c.779A>C p.His260Pro Missense 1/1 -
16-89986350-G-A MC1R c.684G>A p.Gln228Gln Synonymous 1/1 -
16-89986025-T-C MC1R c.359T>C p.Ile120Thr Missense 1/1 -
16-89985814-C-T MC1R c.148C>T p.Leu50Leu Synonymous 1/1 -
16-89985796-C-G MC1R c.130C>G p.Leu44Val Missense 1/1 -
16-89985982-C-T MC1R c.316C>T p.Leu106Leu Synonymous 1/1 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
16-89986032-G-A MC1R c.366G>A p.Val122Val Synonymous 1/1 -
16-89986032-G-C MC1R c.366G>C p.Val122Val Synonymous 1/1 -
11-64014034-C-T PPP1R14B c.112G>A p.Gly38Arg Missense 1/4 -
16-89985975-C-G MC1R c.309C>G p.Ala103Ala Synonymous 1/1 -
16-89985975-C-T MC1R c.309C>T p.Ala103Ala Synonymous 1/1 -
16-89985975-C-A MC1R c.309C>A p.Ala103Ala Synonymous 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89986212-C-T MC1R c.546C>T p.Tyr182Tyr Synonymous 1/1 -
16-89985799-T-C MC1R c.133T>C p.Phe45Leu Missense 1/1 -
16-89986170-C-T MC1R c.504C>T p.Ile168Ile Synonymous 1/1 -
16-89985770-G-A MC1R c.104G>A p.Cys35Tyr Missense 1/1 -
11-64013899-A-G PPP1R14B c.247T>C p.Tyr83His Missense 1/4 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89986186-G-A MC1R c.520G>A p.Val174Ile Missense 1/1 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
16-89985984-G-C MC1R c.318G>C p.Leu106Leu Synonymous 1/1 -
16-89985984-G-A MC1R c.318G>A p.Leu106Leu Synonymous 1/1 -
16-89985983-T-A MC1R c.317T>A p.Leu106Gln Missense 1/1 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986356-G-C MC1R c.690G>C p.Pro230Pro Synonymous 1/1 -
16-89985984-G-T MC1R c.318G>T p.Leu106Leu Synonymous 1/1 -
16-89986392-C-T MC1R c.726C>T p.Thr242Thr Synonymous 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
11-64013894-G-T PPP1R14B c.252C>A p.Asp84Glu Missense 1/4 -
16-89986386-T-C MC1R c.720T>C p.Ala240Ala Synonymous 1/1 -
11-64012245-C-T PPP1R14B c.425G>A p.Ser142Asn Missense 4/4 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986252-T-C MC1R c.586T>C p.Phe196Leu Missense 1/1 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 1/1 -
16-89986589-C-T MC1R c.923C>T p.Thr308Met Missense 1/1 -
11-64014042-C-T PPP1R14B c.104G>A p.Gly35Glu Missense 1/4 -
16-89986170-C-A MC1R c.504C>A p.Ile168Ile Synonymous 1/1 -
16-89986326-C-T MC1R c.660C>T p.Gly220Gly Synonymous 1/1 -
16-89985907-G-C MC1R c.241G>C p.Ala81Pro Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89985866-G-A MC1R c.200G>A p.Arg67Gln Missense 1/1 -
16-89986461-C-G MC1R c.795C>G p.Val265Val Synonymous 1/1 -
11-64013996-C-T PPP1R14B c.150G>A p.Val50Val Synonymous 1/4 -
16-89986355-C-T MC1R c.689C>T p.Pro230Leu Missense 1/1 -
11-64012686-G-A PPP1R14B c.332C>T p.Ala111Val Missense 2/4 -