ontologies
SNPO
Single-Nucleotide Polymorphism (SNP) Ontology (SNPO)
OWL
No license
Last submission date March 14, 2017
ID http://www.loria.fr/~coulet/ontology/snpontology/version1.6/snpontology_full.owl#variant
http://www.loria.fr/~coulet/ontology/snpontology/version1.6/snpontology_full.owl#variant
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Preferred name

variant

Definitions

A variant is a genomic variation description at the nucleotide or proteic level. It is defined by a position on a sequence. This sequence could be either a nucleotide sequence if the observed variation is a nucleotide variation, either a residue change if the observed variation is an residue variation. At the precised position is observed a variation (the observed variation) in the sequence respectively to a "reference" (or "known") sequence.

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