C45390Level 8
Donor Splice Site SNP
**Semantic type:** Nucleotide Sequence
**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.
**Synonyms:** - Intronic, Donor Splice Site SNP - Splice Donor - Splice Donor Point Mutation - Splice Donor Variant - Splice Donor Variant
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Cross-system equivalences0
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