Rs16891982 Explained

Rsid:rs16891982
Name 1:F374L
Name 2:c.1122C>G
Gene:SLC45A2
Chromosome:5
Region:Exon 5[1]

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.

C allele homozygosity is associated with black hair in people of European descent, although those with this genotype are usually of non-European descent.

C/G allele heterozygosity is associated with black hair in people of European descent

G allele homozygosity is associated with light skin, hair, and eye color (European ancestry),[3] [4] those with this genotype also have a slightly higher susceptibility to melanoma.[5]

Notes and References

  1. The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population . PLOS ONE . 5 August 2014 . 9 . 8 . e104367 . 10.1371/journal.pone.0104367 . 1932-6203. free . López . Saioa . García . Óscar . Yurrebaso . Iñaki . Flores . Carlos . Acosta-Herrera . Marialbert . Chen . Hua . Gardeazabal . Jesús . Careaga . Jesús María . Boyano . María Dolores . Sánchez . Ana . Ratón-Nieto . Juan Antonio . Sevilla . Arrate . Smith-Zubiaga . Isabel . De Galdeano . Alicia García . Martinez-Cadenas . Conrado . Izagirre . Neskuts . de la Rúa . Concepción . Alonso . Santos . 25093503 . 4122405 . 2014PLoSO...9j4367L .
  2. Web site: rs16891982 - SNPedia . 2022-10-01 . www.snpedia.com.
  3. 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 . Ashton-Prolla . Patricia . 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 . 10.1186/s12885-020-07485-x . 33167923 . 7650158 . 1471-2407 . free .
  4. 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 . HOMO . en . 68 . 2 . 134–144 . 10.1016/j.jchb.2017.02.002 . 28242083 . 0018-442X.
  5. Web site: rs16891982 RefSNP Report - dbSNP - NCBI . 2022-10-01 . www.ncbi.nlm.nih.gov.

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