National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Point Mutation

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62200

ALT_DEFINITION

An alteration in a DNA sequence caused by the substitution of a single nucleotide for another nucleotide.

code

C62200

DEFINITION

A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations.

label

Point Mutation

Legacy_Concept_Name

Point_Mutation

Preferred_Name

Point Mutation

prefixIRI

C62200

prefLabel

Point Mutation

Semantic_Type

Cell or Molecular Dysfunction

UMLS_CUI

C0162735

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576

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http://purl.bioontology.org/ontology/MESH/D017354 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/SO_1000008 Sequence Types and Features Ontology LOOM