Biology:Melanocortin 1 receptor Asp294His
From HandWiki
| SNP: Melanocortin 1 receptor Asp294His | |
|---|---|
| Name(s) | Asp294His |
| Gene | MC1R |
| Chromosome | 16 |
| External databases | |
| Ensembl | Human SNPView |
| dbSNP | 1805009 |
| HapMap | 1805009 |
| SNPedia | 1805009 |
 | It has been suggested that this page 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
- ↑ "Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans". Nature Genetics 11 (3): 328–30. November 1995. doi:10.1038/ng1195-328. PMID 7581459.
- ↑ "Melanocortin 1 receptor variants in an Irish population". The Journal of Investigative Dermatology 111 (1): 119–22. July 1998. doi:10.1046/j.1523-1747.1998.00252.x. PMID 9665397.
- ↑ "Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma". The Journal of Investigative Dermatology 116 (2): 224–9. February 2001. doi:10.1046/j.1523-1747.2001.01224.x. PMID 11179997.
 |
