Hs05583824_cn

• Gene Symbol: TBC1D22A
• Assay Reference Genome Location: Chr.22:46765168 on build GRCh38
• Cytoband: 22q13.31

Target Gene Details

• Entrez Gene ID: 25771
• Gene Name: TBC1 domain family member 22A
• Gene Aliases: C22orf4, HSC79E021
• Location: Chr.22:46762617-47224975 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D22A	NM_001284303.1			NP_001271232.1
	NM_001284304.1			NP_001271233.1
	NM_014346.3			NP_055161.1
	NR_104292.1
	XM_005261496.1			XP_005261553.1
	XM_011530099.1			XP_011528401.1
	XM_011530100.2			XP_011528402.1
	XM_011530101.2			XP_011528403.1
	XM_011530102.2			XP_011528404.1
	XM_017028742.1			XP_016884231.1
	XM_017028743.1			XP_016884232.1
	XM_017028744.1			XP_016884233.1
	XM_017028745.1			XP_016884234.1
	XM_017028746.1			XP_016884235.1
	XM_017028747.1			XP_016884236.1
	AB449908.1
	AK055591.1
	AK125705.1			BAC86253.1
	AK301445.1
	AK308039.1
	AK315779.1
	BC001292.1			AAH01292.2
	BC002743.2			AAH02743.2
	BC020976.1			AAH20976.2
	BC029897.1			AAH29897.1
	CR456412.1			CAG30298.1
	DA990679.1
	HY033225.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3654	Chr.22:46755700 - 46775645 on Build GRCh38	Insertion	TBC1D22A

More Information

Additional Information:

For this assay, SNP(s) [rs73888663] 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
regulation of vesicle fusion
activation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
protein binding
Rab GTPase binding
protein homodimerization activity
14-3-3 protein binding