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See other GAB4 CNV Assays ›
Gene Symbol
GAB4
Assay Reference Genome
Location

Chr.22:16970678 on build GRCh38
Cytoband
22q11.1
Assay ID Hs05581959_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

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 4
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
XM_017028576.1 XP_016884065.1
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
esv2763696 Chr.22:16384236 - 16983056 on Build GRCh38 Gain TPTEP1 ACTR3BP6 GAB4 HSFY1P1 LOC101929350 CCT8L2 ANKRD62P1-PARP4P3 XKR3
esv3647204 Chr.22:16939332 - 17123705 on Build GRCh38 Gain CECR6 GAB4 LOC100996342 CECR7 IL17RA
dgv4460n100 Chr.22:16384224 - 17135620 on Build GRCh38 Gain TPTEP1 ACTR3BP6 CECR6 GAB4 HSFY1P1 LOC100996342 LOC101929350 CCT8L2 CECR7 ANKRD62P1-PARP4P3 IL17RA XKR3
nsv588077 Chr.22:16674094 - 16972076 on Build GRCh38 Gain GAB4 HSFY1P1 LOC101929350 ANKRD62P1-PARP4P3 XKR3
esv1004225 Chr.22:16965391 - 16973576 on Build GRCh38 Deletion GAB4
dgv4463n100 Chr.22:16749141 - 17081023 on Build GRCh38 Gain GAB4 HSFY1P1 CECR7 XKR3
nsv527637 Chr.22:16437596 - 16981295 on Build GRCh38 Gain TPTEP1 ACTR3BP6 GAB4 HSFY1P1 LOC101929350 CCT8L2 ANKRD62P1-PARP4P3 XKR3
esv3575406 Chr.22:16408174 - 16982154 on Build GRCh38 Gain TPTEP1 ACTR3BP6 GAB4 HSFY1P1 LOC101929350 CCT8L2 ANKRD62P1-PARP4P3 XKR3
nsv1064641 Chr.22:16757380 - 17233805 on Build GRCh38 Gain CECR1 CECR6 GAB4 HSFY1P1 LOC100996342 CECR5-AS1 CECR7 IL17RA CECR5 XKR3

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More Information


Additional Information:

For this assay, SNP(s) [rs73145687] 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

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