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          • Home
          • › Search Tool
          • › Search Results
          • › Hs03815814_cn
          See other KMT2D CNV Assays ›
          Gene Symbol
          KMT2D
          Assay Reference Genome
          Location

          Chr.12:49030126 on build GRCh38
          Cytoband
          Assay ID Hs03815814_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your Price
          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          8085

          Gene Name:

          lysine methyltransferase 2D

          Gene Aliases:

          AAD10, ALR, BCAHH, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21

          Location:

          Chr.12:49018978-49060794 on Build GRCh38

          Assay Gene Location:

          Within Intron 43
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          KMT2D NM_003482.4 NP_003473.3
          AB209494.1 BAD92731.1
          AF010403.1 AAC51734.1
          AF010404.1 AAC51735.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv832404 Chr.12:48864777 - 49064772 on Build GRCh38 Gain RHEBL1 WNT1 FKBP11 WNT10B DRC2 DDN-AS1 KMT2D RND1 PRKAG1 DDN ARF3
          nsv952174 Chr.12:49018918 - 49054617 on Build GRCh38 Deletion DDN-AS1 KMT2D
          nsv558833 Chr.12:48965097 - 49085029 on Build GRCh38 Loss RHEBL1 WNT1 WNT10B DDN-AS1 KMT2D PRKAG1 DDN
          nsv700 Chr.12:49019535 - 49050142 on Build GRCh38 Insertion KMT2D

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          oocyte growth
          chromatin organization
          regulation of transcription, DNA-templated
          positive regulation of cell proliferation
          heterochromatin assembly
          methylation
          positive regulation of intracellular estrogen receptor signaling pathway
          response to estrogen
          positive regulation of transcription from RNA polymerase II promoter
          oogenesis
          beta-catenin-TCF complex assembly
          transcription regulatory region sequence-specific DNA binding
          DNA binding
          transcription coactivator activity
          protein binding
          methyltransferase activity
          zinc ion binding
          transferase activity
          histone methyltransferase activity (H3-K4 specific)
          metal ion binding
          histone H3K4 monomethyltransferase activity
          histone H3K4 trimethyltransferase activity

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