Single Nucleotide Polymorphism (SNP)

26 de January de 2021


A Single Nucleotide Polymorphism (SNP) is agenetic variant in the DNA sequencebetween individuals of the same species and found with a frequency greater than 1% (below this, it is called: mutation).A Single Nucleotide Polymorphism may have no effect located in a non-coding region of DNA, but if we find a SNP in a coding or regulatory region, then it is likely that the presence of the SNP has consequences on the phenotype. For example, it could make the allele of a drug metabolism gene non-functional.

Dr. Juan Sabater-Tobella

European Specialist in Clinical Chemistry and Laboratory Medicine (EC4)Member of the Pharmacogenomics Research NetworkMember of the International Society of Pharmacogenomics and Outcomes ResearchPresidente de EUGENOMIC®

Last modified: Nov 20, 2018 @ 5:26 pm