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Summary
SequenceProtein InformationProtein summaryDomains & featuresVariantsPDB 3D protein modelAlphaFold predicted modelGenetic VariationVariant tableVariant imageHaplotypesPopulation comparisonComparison imageExternal ReferencesSupporting evidenceID History.
torsin family 1, member A (torsin A) [Source:HGNC Symbol;Acc:3098]
DQ2, DYT1
Chromosome 9: 132,575,223-132,586,413 reverse strand.
This transcript has 5 exons, is annotated with 9 domains and features, is associated with 5423 variant alleles and maps to 443 oligo probes.
This transcript is a product of gene ENSG00000136827.11 Show transcript tableHide transcript table
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Exons: 5, Coding exons: 5, Transcript length: 2,076 bps, Translation length: 332 residues
This transcript corresponds to the following Uniprot identifiers: O14656
This transcript is a member of the Human CCDS set: CCDS6930
ENST00000351698.4
Protein coding
Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.
This transcript corresponds to the following database identifiers:
| Transcript having exact match between ENSEMBL and HAVANA: |
OTTHUMT00000054611 (version 1) |
|---|
This transcript is a member of the Gencode basic gene set.
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