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See other GBE1 CNV Assays ›
Gene Symbol
GBE1
Assay Reference Genome
Location

Chr.3:81656747 on build GRCh38
Cytoband
Assay ID Hs03468307_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 2632

Gene Name:

 1,4-alpha-glucan branching enzyme 1

Gene Aliases:

 APBD, GBE, GSD4

Location:

 Chr.3:81489703-81761645 on Build GRCh38

Assay Gene Location:

 Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GBE1 NM_000158.4 NP_000149.4
AB209731.1 BAD92968.1
AK125918.1 BAG54265.1
AK297939.1 BAG60255.1
AK300620.1 BAG62313.1
AK312245.1
BC012098.1 AAH12098.1
L07956.1 AAA58642.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3893729 Chr.3:81648181 - 81679366 on Build GRCh38 Loss GBE1
esv3596751 Chr.3:81655910 - 81657413 on Build GRCh38 Loss GBE1
nsv5447900 Chr.3:81656772 - 81657536 on Build GRCh38 Deletion GBE1
nsv4083598 Chr.3:81537753 - 81686872 on Build GRCh38 Deletion GBE1
nsv834749 Chr.3:81606226 - 81769729 on Build GRCh38 Gain GBE1
nsv4085433 Chr.3:81629406 - 82093954 on Build GRCh38 Duplication GBE1 LOC105377178 LINC02008

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More Information


Additional Information:

For this assay, SNP(s) [rs114293995] 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

Gene Ontology Categories:

Function(s) Process(es)


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