Hs05932372_cn

• Gene Symbol: TBCK
• Assay Reference Genome Location: Chr.4:106119237 on build GRCh38
• Cytoband: 4q24

Target Gene Details

• Entrez Gene ID: 93627
• Gene Name: TBC1 domain containing kinase
• Gene Aliases: HSPC302, IHPRF3, TBCKL
• Location: Chr.4:106044317-106316704 on Build GRCh38
• Assay Gene Location: Within Intron 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBCK	NM_001163435.2			NP_001156907.1
	NM_001163436.2			NP_001156908.1
	NM_001163437.2			NP_001156909.1
	NM_001290768.1			NP_001277697.1
	NM_033115.4			NP_149106.2
	XM_011532417.2			XP_011530719.1
	XM_017008846.1			XP_016864335.1
	XM_017008847.1			XP_016864336.1
	XM_017008848.1			XP_016864337.1
	XM_017008849.1			XP_016864338.1
	AB449876.1
	AF161420.1			AAF28980.1
	AK074305.1			BAB85045.1
	AK098157.1			BAC05244.1
	AK315571.1
	BC009208.2			AAH09208.2
	BC020853.2			AAH20853.2
	BC068496.1			AAH68496.1
	BX647851.1			CAI46102.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv511247	Chr.4:106101545 - 106144063 on Build GRCh38	Gain	TBCK
esv3601673	Chr.4:106102808 - 106127774 on Build GRCh38	Gain	TBCK
nsv4450	Chr.4:106116666 - 106161512 on Build GRCh38	Deletion	TBCK
nsv1000196	Chr.4:103475625 - 106148054 on Build GRCh38	Loss	ARHGEF38 PPA2 GSTCD LOC101929468 LOC101929529 TACR3 INTS12 ARHGEF38-IT1 CXXC4 TET2 LOC101929577 TBCK TET2-AS1 NPNT

More Information

Additional Information:

For this assay, SNP(s) [rs74655765] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

protein phosphorylation
intracellular protein transport
regulation of vesicle fusion
activation of GTPase activity

Function(s)

protein kinase activity
GTPase activator activity
ATP binding
Rab GTPase binding