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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	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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