Hs05565493_cn

• Gene Symbol: GAB4
• Assay Reference Genome Location: Chr.22:16990585 on build GRCh38
• Cytoband: 22q11.1

Target Gene Details

• Entrez Gene ID: 128954
• Gene Name: GRB2 associated binding protein family member 4
• Gene Aliases: -
• Location: Chr.22:16961936-17008281 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GAB4	NM_001037814.1			NP_001032903.1
	XM_011546114.2			XP_011544416.1
	XM_011546115.1			XP_011544417.1
	XM_011546116.2			XP_011544418.1
	XM_011546117.1			XP_011544419.1
	XM_017028575.1			XP_016884064.1
	AB076978.1			BAD06454.1
	AK057252.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3647204	Chr.22:16939332 - 17123705 on Build GRCh38	Gain	CECR7 LOC100996342 GAB4 CECR6 IL17RA
dgv4460n100	Chr.22:16384224 - 17135620 on Build GRCh38	Gain	CCT8L2 LOC101929350 CECR7 TPTEP1 LOC100996342 GAB4 XKR3 ANKRD62P1-PARP4P3 HSFY1P1 ACTR3BP6 CECR6 IL17RA
dgv4463n100	Chr.22:16749141 - 17081023 on Build GRCh38	Gain	CECR7 GAB4 XKR3 HSFY1P1
nsv1064641	Chr.22:16757380 - 17233805 on Build GRCh38	Gain	CECR7 LOC100996342 GAB4 CECR5 XKR3 CECR1 HSFY1P1 CECR6 IL17RA CECR5-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs142646253] 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 -

scaffold/adaptor protein