Hs05953811_cn

• Gene Symbol: TBC1D14
• Assay Reference Genome Location: Chr.4:6931324 on build GRCh38
• Cytoband: 4p16.1

Target Gene Details

• Entrez Gene ID: 57533
• Gene Name: TBC1 domain family member 14
• Gene Aliases: -
• Location: Chr.4:6909444-7033118 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D14	NM_001113361.1			NP_001106832.1
	NM_020773.2			NP_065824.2
	XM_005247986.2			XP_005248043.1
	XM_006713895.2			XP_006713958.1
	XM_011513507.2			XP_011511809.1
	XM_011513508.1			XP_011511810.1
	XM_017008477.1			XP_016863966.1
	AB037743.1
	AB449900.1
	BC041167.1			AAH41167.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1456e212	Chr.4:6928387 - 6936439 on Build GRCh38	Loss	TBC1D14

More Information

Additional Information:

For this assay, SNP(s) [rs76163890] 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)

intracellular protein transport
negative regulation of autophagy
regulation of vesicle fusion
recycling endosome to Golgi transport
activation of GTPase activity
regulation of cilium assembly
regulation of autophagosome assembly

Function(s)

GTPase activator activity
protein binding
Rab GTPase binding
protein kinase binding