Melanocortin 1 receptor Asp294His
| SNP: rs1805009 | |
|---|---|
| Name(s) | Asp294His |
| Gene | MC1R |
| Chromosome | 16 |
| External databases | |
| Ensembl | Human SNPView |
| dbSNP | 1805009 |
| HapMap | 1805009 |
| SNPedia | 1805009 |
 | It has been suggested that this article be merged into Melanocortin_1_receptor. (Discuss) Proposed since October 2018. |
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.
{{cite journal}}: Unknown parameter|last-author-amp=ignored (|name-list-style=suggested) (help) - ^ 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.
{{cite journal}}: Unknown parameter|last-author-amp=ignored (|name-list-style=suggested) (help) - ^ 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.
{{cite journal}}: Unknown parameter|last-author-amp=ignored (|name-list-style=suggested) (help)