Melanocortin 1 receptor Asp294His

SNP: Melanocortin 1 receptor Asp294His
Name(s)	Asp294His
Gene	MC1R
Chromosome	16
External databases
Ensembl	Human SNPView
dbSNP	1805009
HapMap	1805009
SNPedia	1805009

Asp294His (rs1805009) is a single nucleotide polymorphism (SNP) in the MC1R gene and it is associated with red hair and light skin type.^[1]^[2]^[3] Other SNPs in the gene, Arg151Cys and Arg160Trp, are also associated with red hair.

References

↑ Valverde P, Healy E, Jackson I, Rees JL & Thody AJ (November 1995). "Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans". Nature Genetics. 11 (3): 328–30. doi:10.1038/ng1195-328. PMID 7581459.
↑ Smith R, Healy E, Siddiqui S, Flanagan N, Steijlen PM, Rosdahl I, Jacques JP, Rogers S, Turner R, Jackson IJ, Birch-Machin MA & Rees JL (July 1998). "Melanocortin 1 receptor variants in an Irish population". The Journal of Investigative Dermatology. 111 (1): 119–22. doi:10.1046/j.1523-1747.1998.00252.x. PMID 9665397.
↑ Box NF, Duffy DL, Irving RE, Russell A, Chen W, Griffyths LR, Parsons PG, Green AC & Sturm RA (February 2001). "Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma". The Journal of Investigative Dermatology. 116 (2): 224–9. doi:10.1046/j.1523-1747.2001.01224.x. PMID 11179997.

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[1] Valverde P, Healy E, Jackson I, Rees JL & Thody AJ (November 1995). "Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans". Nature Genetics. 11 (3): 328–30. doi:10.1038/ng1195-328. PMID 7581459.

[2] Smith R, Healy E, Siddiqui S, Flanagan N, Steijlen PM, Rosdahl I, Jacques JP, Rogers S, Turner R, Jackson IJ, Birch-Machin MA & Rees JL (July 1998). "Melanocortin 1 receptor variants in an Irish population". The Journal of Investigative Dermatology. 111 (1): 119–22. doi:10.1046/j.1523-1747.1998.00252.x. PMID 9665397.

[3] Box NF, Duffy DL, Irving RE, Russell A, Chen W, Griffyths LR, Parsons PG, Green AC & Sturm RA (February 2001). "Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma". The Journal of Investigative Dermatology. 116 (2): 224–9. doi:10.1046/j.1523-1747.2001.01224.x. PMID 11179997.