Hs01045687_cn

• Gene Symbol: TOR3A
• Assay Reference Genome Location: Chr.1:179095334 on build GRCh38
• Cytoband: 1q25.2

Target Gene Details

• Entrez Gene ID: 64222
• Gene Name: torsin family 3 member A
• Gene Aliases: ADIR, ADIR2
• Location: Chr.1:179081977-179095996 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOR3A	NM_022371.3	6	1462	NP_071766.2
	AJ299403.1	6	1351	CAC13973.1
	AJ299441.1			CAC14461.1
	AK025998.1	6	1341	BAB15312.1
	AK130132.1	4	781
	AK299966.1
	AK316530.1	5	1071
	BC001085.1	6	1360	AAH01085.1
	BC007571.1	6	1351	AAH07571.1
	BC011746.1	6	1347	AAH11746.1
	BC018292.1	6	1352	AAH18292.1
	BC088368.1	5	1089	AAH88368.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2658665	Chr.1:179095258 - 179097564 on Build GRCh38	Deletion	TOR3A
esv3588046	Chr.1:179095237 - 179097591 on Build GRCh38	Loss	TOR3A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Function(s)

ATP binding
ATPase activity