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  2. Point mutation - Wikipedia

    en.wikipedia.org/wiki/Point_mutation

    A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. [1] Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation.

  3. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    The upper DNA molecule differs from the lower DNA molecule at a single base-pair location (a G/A polymorphism) In genetics and bioinformatics, a single-nucleotide polymorphism (SNP / s n ɪ p /; plural SNPs / s n ɪ p s /) is a germline substitution of a single nucleotide at a specific position in the genome.

  4. Infinite sites model - Wikipedia

    en.wikipedia.org/wiki/Infinite_sites_model

    The assumptions of the ISM are that (1) there are an infinite number of sites where mutations can occur, (2) every new mutation occurs at a novel site, and (3) there is no recombination. [1] [2] [3] The term ‘site’ refers to a single nucleotide base pair. [1]

  5. Mutation rate - Wikipedia

    en.wikipedia.org/wiki/Mutation_rate

    Mutation rates are not constant and are not limited to a single type of mutation; there are many different types of mutations. Mutation rates are given for specific classes of mutations. Point mutations are a class of mutations which are changes to a single base. Missense, nonsense, and synonymous mutations are three subtypes of point mutations ...

  6. Mutation - Wikipedia

    en.wikipedia.org/wiki/Mutation

    Point mutations are modifications of single base pairs of DNA or other small base pairs within a gene. A point mutation can be reversed by another point mutation, in which the nucleotide is changed back to its original state (true reversion) or by second-site reversion (a complementary mutation elsewhere that results in regained gene ...

  7. Base pair - Wikipedia

    en.wikipedia.org/wiki/Base_pair

    An unnatural base pair (UBP) is a designed subunit (or nucleobase) of DNA which is created in a laboratory and does not occur in nature. DNA sequences have been described which use newly created nucleobases to form a third base pair, in addition to the two base pairs found in nature, A-T (adenine – thymine) and G-C (guanine – cytosine).

  8. Insertion (genetics) - Wikipedia

    en.wikipedia.org/wiki/Insertion_(genetics)

    Insertions can be anywhere in size from one base pair incorrectly inserted into a DNA sequence to a section of one chromosome inserted into another. The mechanism of the smallest single base insertion mutations is believed to be through base-pair separation between the template and primer strands followed by non-neighbor base stacking, which ...

  9. SNP genotyping - Wikipedia

    en.wikipedia.org/wiki/SNP_genotyping

    An SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency is > 1%). SNPs are found to be involved in the etiology of many human diseases and are becoming of particular interest in pharmacogenetics .