PMID: 32350296

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific reports
AK Smit, M Collazo-Roman, ST Vadaparampil, S Valavanis, J Del Rio, B Soto, I Flores, J Dutil, PA Kanetsky
2020-04-29

36 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986560-C-T MC1R c.894C>T p.Tyr298Tyr Synonymous 1/1 -
16-89986609-T-C MC1R c.943T>C p.Cys315Arg Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89986566-C-T MC1R c.900C>T p.Phe300Phe Synonymous 1/1 -
16-89985856-G-A MC1R c.190G>A p.Ala64Thr Missense 1/1 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89985999-G-A MC1R c.333G>A p.Ala111Ala Synonymous 1/1 -
16-89985806-G-T MC1R c.140G>T p.Ser47Ile Missense 1/1 -
16-89985999-G-C MC1R c.333G>C p.Ala111Ala Synonymous 1/1 -
16-89985999-G-T MC1R c.333G>T p.Ala111Ala Synonymous 1/1 -
16-89985801-C-G MC1R c.135C>G p.Phe45Leu Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89985982-C-T MC1R c.316C>T p.Leu106Leu Synonymous 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89985799-T-C MC1R c.133T>C p.Phe45Leu Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89986170-C-T MC1R c.504C>T p.Ile168Ile Synonymous 1/1 -
16-89985984-G-A MC1R c.318G>A p.Leu106Leu Synonymous 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89985752-A-AA MC1R c.86dupA p.Asn29Lysfs*14 Frameshift 1/1 -
16-89985984-G-T MC1R c.318G>T p.Leu106Leu Synonymous 1/1 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89985984-G-C MC1R c.318G>C p.Leu106Leu Synonymous 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
16-89985916-G-A MC1R c.250G>A p.Asp84Asn Missense 1/1 -
16-89986252-T-C MC1R c.586T>C p.Phe196Leu Missense 1/1 -
16-89986090-C-T MC1R c.424C>T p.Arg142Cys Missense 1/1 -
16-89986203-C-CC MC1R c.537dupC p.Ile180Hisfs*59 Frameshift 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89986170-C-A MC1R c.504C>A p.Ile168Ile Synonymous 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89985998-C-T MC1R c.332C>T p.Ala111Val Missense 1/1 -