A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron. [ http://ensembl.org/info/docs/variation/index.html ]

Synonyms: VAAST:splice_region_variant snpEff:SPLICE_SITE_REGION Jannovar:splice_region_variant splice region variant VEP:splice_region_variant

This is just here as a test because I lose it

Term information

comment

EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron.

created by

kareneilbeck

creation date

2010-03-24T09:46:02Z

has related synonym

ANNOVAR:splicing

snpEff:SPLICE_SITE_BRANCH_U12

snpEff:SPLICE_SITE_BRANCH

id

SO:0001630

Term relations

Subclass of: