Acceptor Splice Site SNP

Preferred Label : Acceptor Splice Site SNP;

NCIt synonyms : Intronic, Acceptor Splice Site SNP; Splice Acceptor Point Mutation;

NCIt related terms : Splice Acceptor Variant; Splice Acceptor;

NCIt definition : A heritable single nucleotide polymorphism located at the acceptor splice site in certain allelic variants of eukaryotic genes. These sites are located in genes at intron to exon junctions at the 3' end of the intron.;

Details

Origin ID

C45389;

UMLS CUI

C1706692;

Semantic type(s)
- Nucleotide Sequence [UMLS semantic type]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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