{"code":"C18279","name":"Single Nucleotide Polymorphism","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Single-Nucleotide Polymorphisms","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"FDA","subSource":"pFDA"},{"name":"single nucleotide polymorphism","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000458046"},{"name":"SNP","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000446539"},{"name":"Polymorphism, Single Base","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Polymorphism, Single Nucleotide","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Single Nucleotide Polymorphism","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"SNP","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Single Nucleotide Polymorphism","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"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.","code":"P97","type":"DEFINITION","source":"NCI"},{"definition":"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.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"FDA"},{"code":"P98","type":"DesignNote","value":"SNPs occur, on average, once every 1000 bases and can be used in gene mapping and linkage analysis."},{"code":"P366","type":"Legacy Concept Name","value":"Single_Nucleotide_Polymorphism"},{"code":"P106","type":"Semantic_Type","value":"Nucleotide Sequence"},{"code":"P207","type":"UMLS_CUI","value":"C0752046"}]}