SLC45A2 rs16897791: What Your Genotype Means
The rs16897791 variant in the SLC45A2 gene is a well-studied genetic marker significantly associated with variations in human pigmentation. It plays a major role in determining differences in skin, hair, and eye color observed across global populations.
What each genotype means
Darker pigmentation predisposition
You carry two copies of the ancestral C allele, which encodes the 374Phe variant of SLC45A2. Research associates this genotype with darker baseline skin, hair, and eye pigmentation compared to G allele carriers. It is the dominant genotype in ancestral African, East Asian, and Indigenous American populations, where it contributes to typical darker pigmentation.
Carried by virtually all individuals of African and East Asian descent (>98%), but found in less than 1% of individuals of European ancestry.
Intermediate pigmentation predisposition
You carry one copy of the ancestral C allele and one copy of the light-pigmentation-associated G allele. Studies indicate an intermediate effect on melanin synthesis, typically contributing to moderately lighter skin and hair tones compared to the CC genotype. This genotype is predominantly observed in admixed populations or individuals of mixed continental ancestry.
Carried by roughly 1% to 5% of individuals in European populations and admixed groups, but extremely rare in unadmixed African and East Asian populations.
Lighter pigmentation predisposition
You carry two copies of the derived G allele, which encodes the 374Leu variant in SLC45A2. This genotype is strongly associated with lighter skin tone, fair hair, and light eye coloration due to reduced melanosomal maturation and lower eumelanin accumulation. Because it contributes to lighter skin pigmentation, published research notes that carriers statistically have a higher sensitivity to UV radiation compared to ancestral genotypes.
Present in more than 95% of individuals of European descent, while virtually absent or extremely rare (<0.1%) in East Asian and African ancestries.
Understanding the Variant
The variant rs16897791, often referred to in scientific literature as the p.Phe374Leu or L374F polymorphism, is a single nucleotide polymorphism (SNP) located within the SLC45A2 gene. This gene is situated on chromosome 5. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. The rs16897791 variant specifically involves a change that results in an amino acid substitution in the protein produced by the gene. Because this variant is located in a region of the genome that influences physical traits, it has been a primary focus for researchers studying the genetic basis of human pigmentation diversity. By analyzing this specific site, scientists can better understand how subtle changes in our genetic code contribute to the wide spectrum of human appearances observed worldwide.
The Role of the SLC45A2 Gene
The SLC45A2 gene, also known as the solute carrier family 45 member 2 gene, provides instructions for making a protein that is essential for the normal function of melanocytes. Melanocytes are specialized cells that produce melanin, the pigment responsible for the color of our skin, hair, and eyes. While the exact mechanism of the SLC45A2 protein is still being researched, it is believed to be involved in the transport of molecules necessary for the proper function of melanosomes, the structures within cells where melanin is synthesized. When the function of this protein is altered, it can lead to changes in the amount or type of melanin produced. Beyond its role in normal pigmentation variation, rare and severe mutations in this gene are known to cause oculocutaneous albinism type 4, a condition characterized by significantly reduced pigmentation.
Research and Evidence
The evidence linking rs16897791 to pigmentation traits is considered strong and is supported by numerous genome-wide association studies (GWAS). Research has consistently shown that this variant is a major determinant of human pigmentation, influencing the color of skin, hair, and eyes in various populations. Beyond pigmentation, some studies have explored the potential protective role of certain SLC45A2 variants against melanoma, suggesting that the genetic factors influencing our appearance may also have implications for skin health. It is important to note that while the association with pigmentation is robust, human traits are polygenic, meaning they are influenced by the combined effects of many different genes and environmental factors. Therefore, this single SNP provides only a partial picture of an individual's overall genetic predisposition for pigmentation.
Interpreting Your Information
Understanding your genotype for rs16897791 can provide insight into the genetic factors that contribute to your physical traits, but it is not a diagnostic tool. This information is primarily educational and reflects statistical associations observed in large population studies rather than individual predictions. You cannot use this information to diagnose medical conditions or predict specific health outcomes. If you have concerns about skin health, such as changes in moles or increased risk of skin cancer, it is essential to consult with a dermatologist or a qualified healthcare professional. They can provide personalized advice based on your clinical history, physical examination, and other relevant factors. Genetic information should always be viewed as one piece of a much larger puzzle regarding your health and biology.
How common is this variant?
The rs16897791 variant shows significant frequency differences across global populations, with the leucine allele being highly frequent in European populations and significantly lower in African and East Asian populations.
Frequently asked questions
What does rs16897791 do?
The rs16897791 variant is a genetic change in the SLC45A2 gene that influences the production of melanin. It is a major factor in the natural variation of human skin, hair, and eye color.
Is rs16897791 related to albinism?
While common variants in SLC45A2 contribute to normal pigmentation differences, rare and severe mutations in the same gene can cause oculocutaneous albinism type 4. These are distinct from the common pigmentation-associated SNPs.
Can this SNP predict my exact eye color?
No, this SNP cannot predict your exact eye color. Pigmentation is a complex trait influenced by many different genes and environmental factors, making it impossible to determine a specific phenotype from a single variant.
Should I be worried about my genotype for this variant?
There is no reason to be worried about your genotype for this variant. It is a normal part of human genetic diversity that helps explain why people have different skin, hair, and eye colors.
Sources & further reading
Educational information only, last refreshed 10/9/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This synonymous variant is in high linkage disequilibrium with functional alleles that influence human skin, hair, and eye pigmentation.
This missense variant (p.Phe374Leu) is a major determinant of human skin, hair, and eye pigmentation, showing strong evidence of selection in European populations.
Synonymous marker in the SLC45A2 locus associated with skin reflectance, tanning response, and freckling phenotypes.
This missense variant (p.Phe374Leu) is a key ancestry-informative marker and a classic signature of recent positive selection, strongly associated with skin pigmentation and melanoma risk.
This variant (p.Phe374Leu) is strongly associated with lighter skin, hair, and eye pigmentation, as well as an increased sensitivity to UV-induced skin damage.
Promoter-associated regulatory variant implicated in hair and skin pigmentation variation across human populations.