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. |
FULL_SYN |
point mutation Point Mutation |
label |
Point Mutation |
Legacy Concept Name |
Point_Mutation |
Preferred_Name |
Point Mutation |
prefixIRI |
Thesaurus:C62200 |
prefLabel |
Point Mutation |
Semantic_Type |
Cell or Molecular Dysfunction |
UMLS_CUI |
C0162735 |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/D017354 | Medical Subject Headings / 医学主题词表 | LOOM | |
http://purl.obolibrary.org/obo/SO_1000008 | Sequence Types and Features Ontology / 序列类型和特征本体 | LOOM |