Preferred Name

silent_mutation

Synonyms

silent mutation

Definitions

A sequence variant that does not affect protein function. Silent mutations may occur in genic ( CDS, UTR, intron etc) and intergenic regions. Silent mutations may have affects on processes such as splicing and regulation. Added in March 2007 in after meeting with PharmGKB. Although this term is in common usage, it is better to annotate with the most specific term possible, such as synonymous codon, intron variant etc.

ID

http://purl.obolibrary.org/obo/SO_0001017

comment

Added in March 2007 in after meeting with PharmGKB. Although this term is in common usage, it is better to annotate with the most specific term possible, such as synonymous codon, intron variant etc.

database_cross_reference

loinc:LA6700-4

http://en.wikipedia.org/wiki/Silent_mutation

definition

A sequence variant that does not affect protein function. Silent mutations may occur in genic ( CDS, UTR, intron etc) and intergenic regions. Silent mutations may have affects on processes such as splicing and regulation.

has_exact_synonym

silent mutation

has_obo_namespace

sequence

id

SO:0001017

label

silent_mutation

notation

SO:0001017

prefLabel

silent_mutation

subClassOf

http://purl.obolibrary.org/obo/SO_0001878

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20629 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/SO_0001017 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/SO_0001017 Human Disease Ontology / 人类疾病本体 SAME_URI
http://purl.bioontology.org/ontology/MESH/D000069456 Medical Subject Headings / 医学主题词表 LOOM