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
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000351698.4 | TOR1A-001 | 2076 | 332aa | ENSP00000345719.4 | Protein coding | CCDS6930 | B4DGM9 O14656 | NM_000113.2 | Ensembl Canonical, GENCODE basic, |
ENST00000473084.1 | TOR1A-002 | 1668 | No protein | - | Processed transcript | - | - | - | |
ENST00000473604.2 | TOR1A-003 | 1055 | No protein | - | Processed transcript | - | - | - | |
ENST00000474192.1 | TOR1A-004 | 947 | No protein | - | Processed transcript | - | - | - |