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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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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