Single Nucleotide Polymorphism

Preferred Label : Single Nucleotide Polymorphism;

NCIt synonyms : Polymorphism, Single Base; Polymorphism, Single Nucleotide;

NCIt related terms : SNP; Single-Nucleotide Polymorphisms;

NCIt definition : A variation of a single nucleotide at a specific location of the genome due to base substitution, present at an appreciable frequency between individuals of a single interbreeding population.;

Alternative definition : NCI-GLOSS: DNA sequence variations that occur when a single nucleotide (adenine, thymine, cytosine, or guanine) in the genome sequence is altered; usually present in at least 1% of the population; pronounced snip.;

NCIt note : SNPs occur, on average, once every 1000 bases and can be used in gene mapping and linkage analysis.;

Codes from synonyms : CDR0000446539; CDR0000458046;

Details

Origin ID

C18279;

UMLS CUI

C0752046;

Automatic exact mappings (from CISMeF team)
- SNP [EDAM topic]
- SNP [EDAM data]
- pressure ulcer [MeSH Descriptor]
Currated CISMeF NLP mapping
- polymorphism, single nucleotide [MeSH Descriptor]
- polymorphism, single nucleotide [MeSH concept]
Semantic type(s)
- Nucleotide Sequence [UMLS semantic type]
UMLS correspondences (same concept)
- polymorphism, single nucleotide [MeSH concept]
- polymorphism, single nucleotide [MeSH Descriptor]
concept_is_in_subset
- pFDA Bioinformatics/Genomics Terminology [NCIt concept]
- precisionFDA Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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