SLC22A1 rs2302764: Understanding This Organic Cation Transporter Variant
The rs2302764 variant is a non-synonymous genetic change located within the SLC22A1 gene, which encodes the organic cation transporter 1 (OCT1). This variant is studied for its potential to influence how the body transports and processes various endogenous compounds and medications.
What each genotype means
Typical OCT1 transporter function
This genotype represents the most common form of the SLC22A1 gene in many populations. Research indicates this version of the OCT1 transporter typically functions as expected in the hepatic uptake of various cationic drugs and endogenous compounds. Please discuss any medication-related concerns or dosing questions with your clinician or pharmacist.
This is the most common genotype in many global populations, though frequencies vary significantly by ancestry.
Intermediate OCT1 transporter activity
Carrying one copy of the T allele may result in altered kinetics for the OCT1 transporter compared to the CC genotype. Studies suggest that variations in SLC22A1 can influence how the liver processes certain medications, such as metformin. Please discuss your medication response and potential dosing adjustments with your healthcare provider.
This heterozygous genotype is observed in a significant portion of European populations, reflecting the common occurrence of the T allele.
Reduced OCT1 transporter activity
This genotype is associated with reduced function of the OCT1 transporter protein, which plays a key role in drug disposition. Research suggests this may affect the hepatic uptake of specific substrates, potentially influencing drug efficacy or clearance. Always consult with your clinician or pharmacist regarding your specific medication regimen and any necessary dosing considerations.
This genotype is less common than the CC or CT genotypes in European populations and is rare in East Asian populations.
What is rs2302764 and Where is it Located?
The rs2302764 variant is a specific single nucleotide polymorphism (SNP) found within the SLC22A1 gene. This gene is situated on chromosome 6 and provides the instructions for creating the organic cation transporter 1 (OCT1) protein. A non-synonymous variant, such as rs2302764, means that the change in the DNA sequence results in a different amino acid being incorporated into the protein structure. Because proteins rely on precise amino acid sequences to fold and function correctly, such changes can potentially alter the protein's activity. Researchers track these variants to understand how subtle differences in our genetic code contribute to biological diversity and individual differences in how we interact with our environment, including the substances we ingest.
The Role of the SLC22A1 Gene
The SLC22A1 gene encodes the OCT1 protein, which acts as a gatekeeper in the liver, kidneys, and intestines. OCT1 is a polyspecific transporter, meaning it is capable of moving a wide variety of small, positively charged molecules—known as organic cations—across cell membranes. This process is essential for the body's ability to eliminate endogenous waste products and to facilitate the uptake of various therapeutic drugs. By controlling the movement of these substances into hepatocytes (liver cells), OCT1 plays a critical role in hepatic metabolism and detoxification. Because it handles such a broad range of substrates, the function of the OCT1 protein is a subject of significant interest in pharmacology, particularly regarding how genetic variations might influence the efficacy or clearance of specific medications.
Research Associations and Evidence Strength
Research into rs2302764 is primarily focused on its functional impact on the OCT1 transporter. While the variant is recognized as a non-synonymous change, the current evidence strength regarding its clinical impact remains limited. Studies have investigated whether this variant alters the kinetics of drug transport, but results can be complex and context-dependent. It is important to note that genetic associations observed in research settings do not always translate into clear-cut clinical outcomes for every individual. Much of the existing literature focuses on the transporter's role in drug metabolism, such as the uptake of metformin or other cationic drugs. Because the evidence is currently considered limited, it is not used as a standard diagnostic tool. Any questions regarding how your specific genetic profile might interact with prescribed medications should always be directed to your clinician or pharmacist.
Population Frequency and Ancestry
Genetic variants often show significant differences in frequency across global populations, and rs2302764 is no exception. Data indicates that there is notable allele frequency heterogeneity between different ancestral groups. For instance, the minor allele frequency (MAF) for this variant is observed to be approximately 0.20 to 0.30 in European populations, while it is significantly lower, often reported at less than 0.02, in East Asian populations. These differences highlight the importance of considering ancestral background when interpreting genetic data. Such variations are common in the human genome and reflect the diverse evolutionary histories of different populations. Understanding these frequency distributions is a fundamental part of genomic research, helping scientists distinguish between common variations and those that may be rare or specific to certain groups.
What You Can and Cannot Do With This Information
Accessing information about your genetic variants can be educational, but it is vital to understand the limitations. You can use this information to better understand the biological pathways involved in drug transport and to engage in more informed conversations with your healthcare providers. However, you cannot use this information to diagnose yourself with a condition or to make independent decisions about your medical treatments. Genetic data is only one piece of a much larger puzzle that includes your environment, lifestyle, and overall health history. Because the clinical significance of rs2302764 is still being explored, it should not be used to predict individual drug responses without professional medical guidance. Always consult with a qualified clinician or pharmacist before making any changes to your medication regimen, as they are best equipped to interpret how your genetics may or may not interact with your specific health needs.
How common is this variant?
The rs2302764 variant displays significant allele frequency heterogeneity, with a minor allele frequency of approximately 0.20-0.30 in Europeans and less than 0.02 in East Asians.
Frequently asked questions
What does the SLC22A1 gene do?
The SLC22A1 gene provides instructions for making the OCT1 protein, which acts as a transporter in the liver and other organs. It helps move various substances, including certain medications and endogenous compounds, into cells.
Is rs2302764 a dangerous mutation?
The rs2302764 variant is a common genetic variation rather than a disease-causing mutation. While it may influence how the OCT1 transporter functions, it is not inherently dangerous and is found in many healthy individuals.
Should I change my medication based on this SNP?
No, you should never change your medication based on genetic information alone. Always discuss your genetic profile and any concerns about your medications with your doctor or pharmacist.
Why is the frequency of this variant different in different populations?
Differences in allele frequencies across populations are common and are the result of human evolutionary history and migration. These variations reflect the natural genetic diversity present within our species.
Sources & further reading
Educational information only, last refreshed 9/26/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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An intronic variant in the organic cation transporter gene associated with altered metformin side-effect profiles.
A variant associated with the occurrence of gastrointestinal side effects in metformin users.
Variant in SLC22A1 (OCT1) associated with altered metformin transport and glycemic response.
Also known as OCT1 p.Met420del, this loss-of-function deletion diminishes hepatic uptake and glycemic response to metformin in patients with type 2 diabetes.
A missense variant in OCT1 that impairs organic cation cellular uptake, altering clinical responsiveness and gastrointestinal tolerance to metformin.
A well-characterized loss-of-function variant (M420del) in the organic cation transporter 1 (OCT1) that reduces hepatic uptake of metformin and other basic drugs, modulating therapeutic efficacy and side effects.