single nucleotide polymorphism
Noun: A single nucleotide polymorphism (SNP) is a common type of genetic variation. It occurs when a single building block of DNA (a nucleotide) at a specific position in the genome differs between members of a species or between paired chromosomes in an individual. These variations are stable, must be present in a significant portion of the population (typically >1%), and are a primary source of genetic diversity.
SNPs are a fundamental concept in genetics and genomics. * They are used as biological markers to locate genes associated with diseases. * Scientists study SNPs to understand how individuals respond to pathogens, chemicals, drugs, and vaccines. * The phrase is often used in its abbreviated form, "SNP" (pronounced "snip").
- Researchers identified a single nucleotide polymorphism linked to an increased risk for the disease.
- The study cataloged millions of single nucleotide polymorphisms across the human genome.
- This SNP causes a change from an adenine (A) to a guanine (G) at a specific locus.
- "SNP genotyping": The process of determining which genetic variant (allele) an individual possesses for a specific SNP.
- "SNP array": A type of DNA microarray used to detect polymorphisms at hundreds of thousands of specific SNP locations simultaneously.
- "Tag SNP": A representative SNP in a region of the genome with high linkage disequilibrium, allowing it to identify a set of associated SNPs without testing every one.
- Polymorphism (n): The general occurrence of two or more clearly different forms or variants in a population. A single nucleotide polymorphism is one specific category of polymorphism.
- Variant (n): A general term for a difference in DNA sequence. All SNPs are variants, but not all variants are SNPs (e.g., insertions or deletions are not SNPs).
- Mutation (n): A broader term for any change in the DNA sequence. A SNP can be considered a type of point mutation that has become common in a population.
- Point mutation (when referring to the specific change at the nucleotide level, though this term does not imply commonality in a population).
- Genetic marker (a general term for a gene or DNA sequence with a known location; many SNPs are used as genetic markers).
- "To be associated with": SNPs are frequently described as being a trait, disease risk, or drug response.
- The SNP was strongly associated with metabolizing the medication slowly.
- "To map a SNP": To determine the specific chromosomal location of a polymorphism.
- The team's goal was to map the SNP to a precise region on chromosome 17.
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(genetics) genetic variation in a DNA sequence that occurs when a single nucleotide in a genome is altered; SNPs are usually considered to be point mutations that have been evolutionarily successful enough to recur in a significant proportion of the population of a species
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