A single nucleotide polymorphism, or SNP (pronounced “snip”), is a variation at a single position in a DNA sequence among individuals. Recall that the DNA sequence is formed from a chain of four nucleotide bases: A, C, G, and T. If more than 1% of a population does not carry the same nucleotide at a specific position in the DNA sequence, then this variation can be classified as a SNP. If a SNP occurs within a gene, then the gene is described as having more than one allele. In these cases, SNPs may lead to variations in the amino acid sequence. SNPs, however, are not just associated with genes; they can also occur in noncoding regions of DNA.
Although a particular SNP may not cause a disorder, some SNPs are associated with certain diseases. These associations allow scientists to look for SNPs in order to evaluate an individual’s genetic predisposition to develop a disease. In addition, if certain SNPs are known to be associated with a trait, then scientists may examine stretches of DNA near these SNPs in an attempt to identify the gene or genes responsible for the trait.
