SLC45A2 rs16891982: What Your Genotype Means
The rs16891982 variant in the SLC45A2 gene is a well-studied genetic marker significantly associated with variations in human skin, hair, and eye pigmentation. It is widely recognized for its role in determining pigmentation traits and has been extensively investigated for its potential influence on melanoma risk.
What each genotype means
Likely lighter pigmentation
You carry two copies of the derived C allele encoding the Phe374 variant of the SLC45A2 transporter. In population genetic studies, this genotype is strongly associated with lighter skin tone, fair or light hair, and lighter eye coloration, along with lower tanning ability. Evidence indicates that while it is tied to typical light European pigmentation traits, it represents a normal polygenic contributor to melanin distribution rather than a medical condition.
Found in approximately 90% to 96% of individuals of European descent, but is exceptionally rare or absent in African and East Asian populations.
Intermediate pigmentation tendency
You carry one copy of the derived C allele and one copy of the ancestral G allele. Research shows that heterozygous individuals frequently display intermediate phenotypic characteristics between fair and darker skin, hair, or eye coloration. Because pigmentation is a complex polygenic trait, your physical traits are also influenced by multiple other genetic loci and environmental factors such as sun exposure.
Carried by roughly 5% to 10% of European populations and occasionally observed in admixed cohorts, while remaining rare across most other global ancestries.
Likely darker pigmentation
You carry two copies of the ancestral G allele encoding the Leu374 variant of SLC45A2. Genome-wide and candidate-gene studies link this genotype with darker skin, darker hair, and darker eye pigmentation, as well as higher baseline melanin production. In populations of European descent where this genotype is uncommon, carriers show statistically significant associations with olive skin tone and dark hair.
Present in nearly 98% to 100% of individuals of African and East Asian ancestry, but occurs in under 1% to 2% of European populations.
Understanding the Variant
The variant rs16891982, often referred to as p.Leu374Phe or L374F, is a single-nucleotide polymorphism (SNP) located within the SLC45A2 gene. This specific change involves a substitution of the amino acid leucine for phenylalanine at position 374 in the resulting protein. Because this change alters the protein's structure, it is classified as a missense variant. This SNP is situated in a region of the genome that has been subject to strong evolutionary selection, particularly in European populations, where it plays a major role in the diversity of human physical appearance. By studying this specific location on the chromosome, researchers have been able to map how subtle changes in our genetic code contribute to the wide spectrum of human pigmentation observed globally.
The Role of the SLC45A2 Gene
The SLC45A2 gene, also known as MATP, provides the blueprint for a protein found primarily in melanocytes. These specialized cells are responsible for producing melanin, the pigment that gives color to our skin, hair, and eyes. While the precise biochemical function of the SLC45A2 protein is still being researched, it is understood to be essential for the proper maturation and function of melanosomes, the cellular structures where melanin is synthesized and stored. By regulating the environment within these organelles, the protein helps determine the type and amount of pigment produced. When the function of this gene is significantly altered, it can lead to conditions such as oculocutaneous albinism type 4 (OCA4), which is characterized by reduced pigmentation. In the general population, however, common variants like rs16891982 contribute to the normal, healthy variation in human coloration.
Research and Associations
Scientific research has consistently linked rs16891982 to variations in skin, hair, and eye color. Studies have shown that the allele associated with lighter pigmentation is highly prevalent in European populations. Beyond normal physical traits, this variant has been a focal point in oncology research. Several studies have investigated whether this SNP influences the risk of developing cutaneous malignant melanoma. While some evidence suggests that certain alleles may be associated with a protective effect or altered risk profiles, the evidence remains complex and often dependent on the specific population being studied. It is important to note that while genetic markers can provide insights into biological predispositions, they are only one piece of a much larger puzzle that includes environmental factors, such as sun exposure, and other genetic influences.
Population Frequency
The frequency of the rs16891982 variant varies significantly across different ancestral groups. It is considered a common variant in European populations, where the allele frequencies are well-documented. Conversely, the variant is rare or absent in many African populations, reflecting different evolutionary pressures and historical migration patterns. This distribution is a classic example of how genetic diversity is structured geographically. Because the variant is so common in some groups and rare in others, researchers must be careful to account for ancestry when conducting studies to avoid misinterpreting the data. Understanding these frequency differences is crucial for the accurate interpretation of genetic testing results and for ensuring that medical research remains inclusive and representative of global human diversity.
Interpreting Your Information
If you have received information about your genotype for rs16891982, it is important to view it as a reflection of natural human genetic variation rather than a medical diagnosis. This variant is primarily associated with normal physical traits like hair and eye color. While some research explores its link to melanoma risk, this does not mean that having a specific genotype determines your health outcomes. Genetic associations are statistical in nature and do not account for the many lifestyle and environmental factors that influence health. If you have concerns about skin health or melanoma risk, the most effective approach is to consult with a dermatologist or a qualified healthcare provider. They can provide personalized advice based on your full medical history, skin type, and sun exposure habits, rather than relying on a single genetic marker.
How common is this variant?
The rs16891982 variant is common in European populations (MAF ~0.5-0.6) and is rare in African populations.
Frequently asked questions
Does my rs16891982 genotype determine my skin color?
While rs16891982 is a major determinant of human pigmentation, it is not the only factor. Skin color is a complex trait influenced by many different genes working in combination with environmental factors.
Can this variant predict if I will get melanoma?
No, this variant cannot predict if you will develop melanoma. While some studies suggest a statistical association with risk, it is not a diagnostic tool and does not account for critical factors like sun exposure and family history.
Should I change my sun protection habits based on this SNP?
You should always follow standard dermatological advice for sun protection, such as using sunscreen and wearing protective clothing, regardless of your genetic results. Consult a dermatologist for personalized skin health recommendations.
Is this variant related to albinism?
Rare, severe mutations in the SLC45A2 gene can cause a form of albinism known as OCA4. However, the common rs16891982 variant is associated with normal variation in pigmentation, not albinism.
Sources & further reading
Educational information only, last refreshed 10/22/2026. 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.
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.
The p.Phe374Leu variant in SLC45A2 is a major determinant of human pigmentation variation, influencing skin, hair, and eye color across global populations.
Promoter-associated regulatory variant implicated in hair and skin pigmentation variation across human populations.