Rs16891982
SNP in the SLC45A2 gene
From Wikipedia, the free encyclopedia
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]
| 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 |
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]
