Hs02777983_cn

• Gene Symbol: TOR1B
• Assay Reference Genome Location: Chr.9:129810997 on build GRCh38
• Cytoband: 9q34.11

Target Gene Details

• Entrez Gene ID: 27348
• Gene Name: torsin family 1 member B
• Gene Aliases: DQ1
• Location: Chr.9:129803143-129811424 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOR1B	NM_001317893.1	4	1482	NP_001304822.1
	NM_001317894.1	3	1306	NP_001304823.1
	NM_014506.2	5	2495	NP_055321.1
	NR_133948.1	5	2636
	NR_134027.1	3	2053
	NR_134113.1	5	1751
	XM_005251927.3	5	1605	XP_005251984.1
	AF007872.1	4	2216	AAC51733.1
	AF317129.1	5	2485	AAG50271.1
	BC006480.1	1	1308	AAH06480.1
	BC015578.2	5	2440	AAH15578.1
	BU633792.1	1	311

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1046477	Chr.9:129608081 - 129997996 on Build GRCh38	Gain	C9orf78 PRRX2 NTMT1 TOR1B PTGES FNBP1 TOR1A ASB6 C9orf50 MIR6855 PRRX2-AS1 USP20
esv3621839	Chr.9:129701704 - 129885823 on Build GRCh38	Loss	C9orf78 PRRX2 TOR1B PTGES TOR1A MIR6855 PRRX2-AS1 USP20
nsv6729	Chr.9:129789659 - 129814916 on Build GRCh38	Insertion	TOR1B TOR1A

More Information

Additional Information:

For this assay, SNP(s) [rs77357177] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

response to unfolded protein
endoplasmic reticulum organization
chaperone mediated protein folding requiring cofactor
protein homooligomerization
nuclear membrane organization

Function(s)

protein binding
ATP binding
ATPase activity