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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: TOR1A ENSG00000136827

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Description

torsin family 1, member A (torsin A) [Source:HGNC Symbol;Acc:3098]

Gene Synonyms

DQ2, DYT1

Location

Chromosome 9: 132,575,223-132,586,413 reverse strand.

GRCh37:CM000671.1

About this gene

This gene has 4 transcripts (splice variants), 4 paralogues and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000351698.4	TOR1A-001	2076	332aa	ENSP00000345719.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6930	B4DGM9 O14656	NM_000113.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000473084.1	TOR1A-002	1668	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473604.2	TOR1A-003	1055	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000474192.1	TOR1A-004	947	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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