Asp294His
| SNP: 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
- ↑ P. Valverde, E. Healy, I. Jackson, J. L. Rees & A. J. Thody (November 1995). "Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans". Nature Genetics 11 (3): 328–320. doi:10.1038/ng1195-328. PMID 7581459.
- ↑ R. Smith, E. Healy, S. Siddiqui, N. Flanagan, P. M. Steijlen, I. Rosdahl, J. P. Jacques, S. Rogers, R. Turner, I. J. Jackson, M. A. Birch-Machin & J. L. Rees (July 1998). "Melanocortin 1 receptor variants in an Irish population". The Journal of Investigative Dermatology 111 (1): 119–112. doi:10.1046/j.1523-1747.1998.00252.x. PMID 9665397.
- ↑ N. F. Box, D. L. Duffy, R. E. Irving, A. Russell, W. Chen, L. R. Griffyths, P. G. Parsons, A. C. Green & R. A. Sturm (February 2001). "Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma". The Journal of investigative dermatology 116 (2): 224–229. doi:10.1046/j.1523-1747.2001.01224.x. PMID 11179997.
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