Biology:rs16891982
From HandWiki
Short description: SNP in the SLC45A2 gene
| SNP: rs16891982 | |
|---|---|
| Name(s) | F374L, c.1122C>G |
| Gene | SLC45A2 |
| Chromosome | 5 |
| Region | Exon 5[1] |
| External databases | |
| Ensembl | Human SNPView |
| dbSNP | rs16891982 |
| HapMap | rs16891982 |
| SNPedia | rs16891982 |
In genetics, rs16891982, also known as F374L, is the name for a single nucleotide polymorphism found in the SLC45A2 gene. The SNP consists of two alleles: C (cytosine) and G (guanine).[2] It is associated with skin tone and hair/eye color. It is a type of missense mutation.[3]
C allele homozygosity is associated with black hair in people of European descent, although those with this genotype are usually of non-European descent.[2]
C/G allele heterozygosity is associated with black hair in people of European descent[2]
G allele homozygosity is associated with light skin, hair, and eye color (European ancestry),[4][5] those with this genotype also have a slightly higher susceptibility to melanoma.[3]
References
- ↑ López, Saioa; García, Óscar; Yurrebaso, Iñaki; Flores, Carlos; Acosta-Herrera, Marialbert; Chen, Hua; Gardeazabal, Jesús; Careaga, Jesús María et al. (5 August 2014). "The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population". PLOS ONE 9 (8): e104367. doi:10.1371/journal.pone.0104367. ISSN 1932-6203. PMID 25093503. Bibcode: 2014PLoSO...9j4367L.
- ↑ 2.0 2.1 2.2 "rs16891982 - SNPedia". https://www.snpedia.com/index.php/Rs16891982.
- ↑ 3.0 3.1 "rs16891982 RefSNP Report - dbSNP - NCBI". https://www.ncbi.nlm.nih.gov/snp/rs16891982#clinical_significance.
- ↑ Reis, Larissa B.; Bakos, Renato M.; Vianna, Fernanda S. L.; Macedo, Gabriel S.; Jacovas, Vanessa C.; Ribeiro-dos-Santos, André M.; Santos, Sidney; Bakos, Lúcio et al. (2020-11-09). "Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil". BMC Cancer 20 (1): 1069. doi:10.1186/s12885-020-07485-x. ISSN 1471-2407. PMID 33167923.
- ↑ Siewierska-Górska, A.; Sitek, A.; Żądzińska, E.; Bartosz, G.; Strapagiel, D. (2017-03-01). "Association of five SNPs with human hair colour in the Polish population" (in en). HOMO 68 (2): 134–144. doi:10.1016/j.jchb.2017.02.002. ISSN 0018-442X. PMID 28242083. https://www.biorxiv.org/content/biorxiv/early/2016/11/12/087429.full.pdf.
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