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          • Home
          • › Search Tool
          • › Search Results
          • › Hs03454265_cn
          See other GBE1 CNV Assays ›
          Gene Symbol
          GBE1
          Assay Reference Genome
          Location

          Chr.3:81684996 on build GRCh38
          Cytoband
          Assay ID Hs03454265_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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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 2
          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
          nsv4083598 Chr.3:81537753 - 81686872 on Build GRCh38 Deletion GBE1
          nsv6375144 Chr.3:81684275 - 81685035 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 LINC02008 LOC105377178

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          carbohydrate metabolic process
          glycogen metabolic process
          glycogen biosynthetic process
          generation of precursor metabolites and energy
          negative regulation of neuron apoptotic process
          catalytic activity
          1,4-alpha-glucan branching enzyme activity
          hydrolase activity, hydrolyzing O-glycosyl compounds
          protein binding
          transferase activity
          transferase activity, transferring glycosyl groups
          carbohydrate binding
          cation binding

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