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SNP
Pronunciation (US): | (GB): |
I. (noun)
Sense 1
Meaning:
(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
Synonyms:
single nucleotide polymorphism; SNP
Classified under:
Nouns denoting natural phenomena
Hypernyms ("SNP" is a kind of...):
polymorphism ((genetics) the genetic variation within a population that natural selection can operate on)
Domain category:
genetic science; genetics (the branch of biology that studies heredity and variation in organisms)
Context examples:
The CYP2C9*2 allele exhibits a clinically-relevant SNP (c.430C>T) in exon 3 that results in a R144C coding change.
(CYP2C9*2 Allele, NCI Thesaurus)
A missense non-synonymous SNP results in an amino acid change in the protein product due to a codon change, while a nonsense non-synonymous SNP results in a termination codon.
(Non-synonymous Coding SNP, NCI Thesaurus)
The CYP2C9*16 allele exhibits a clinically-relevant SNP (c.895A>G) that results in a T299A coding change.
(CYP2C9*16 Allele, NCI Thesaurus)
The CYP2C9*12 allele exhibits a clinically-relevant SNP (c.1465C>T) in exon 9 that results in a P489S coding change.
(CYP2C9*12 Allele, NCI Thesaurus)
The CYP2C8*8 allele exhibits a clinically-relevant SNP (c.556C>G) in exon 4 that results in a R186G coding change.
(CYP2C8*8 Allele, NCI Thesaurus)
The CYP2C9*11 allele exhibits a clinically-relevant SNP (c.1003C>T) in exon 7 that results in a R335W coding change.
(CYP2C9*11 Allele, NCI Thesaurus)
The CYP2C19*3 allele exhibits a clinically-relevant SNP (c.636G>A) in exon 3 that results in a W212X coding change.
(CYP2C19*3 Allele, NCI Thesaurus)
The CYP2C19*8 allele exhibits a clinically-relevant SNP (c.358T>C) in exon 3 that results in a W120R coding change.
(CYP2C19*8 Allele, NCI Thesaurus)
CASP8*1 allele exhibits a SNP (c.1207G>C) that results in a D302H coding change, which may reduce the activity of the encoded protein.
(CASP8*1 Allele, NCI Thesaurus)
The CYP2C19*2 allele exhibits a clinically-relevant SNP (c.681G>A) in exon 5 that causes a splicing defect; this alteration results in a truncated cytochrome P450 2C19*2 protein that is enzymatically inactive.
(CYP2C19*2 Allele, NCI Thesaurus)