Donor Splice Site SNP

Preferred Label : Donor Splice Site SNP;

NCIt synonyms : Intronic, Donor Splice Site SNP; Splice Donor Variant; Splice Donor Point Mutation;

NCIt related terms : Splice Donor;

NCIt definition : An inherited single base change at a donor splice site in a genomic DNA sequence that results in an allelic variant of the wild-type gene. Donor splice sites are located at exon to intron junctions at the 5' end of the intron.;

Details

Origin ID

C45390;

UMLS CUI

C1707808;

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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