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 |
| HgenetInfoDB | 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. PMID 7581459. doi:10.1038/ng1195-328.
- ↑ 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. PMID 9665397. doi:10.1046/j.1523-1747.1998.00252.x.
- ↑ 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. PMID 11179997. doi:10.1046/j.1523-1747.2001.01224.x.
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