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Gene Symbol
KMT2D
Assay Reference Genome
Location

Chr.12:49021795 on build GRCh38
Cytoband
12q13.12
Assay ID Hs01878356_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 8085

Gene Name:

 lysine methyltransferase 2D

Gene Aliases:

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

Location:

 Chr.12:49018975-49060884 on Build GRCh38

Assay Gene Location:

 Within Exon 56
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
KMT2D NM_003482.3 54 16599 NP_003473.3
XM_005269162.4 55 17878 XP_005269219.1
XM_006719614.3 55 17887 XP_006719677.1
XM_006719616.3 55 17875 XP_006719679.1
XM_011538770.2 56 17938 XP_011537072.1
XM_011538771.2 56 17935 XP_011537073.1
XM_011538772.2 56 17929 XP_011537074.1
XM_011538773.2 56 17926 XP_011537075.1
XM_011538774.2 56 17918 XP_011537076.1
XM_011538776.2 56 17845 XP_011537078.1
AB209494.1 21 8101 BAD92731.1
AF010403.1 AAC51734.1
AF010404.1 AAC51735.1
BC039197.2 7 1175 AAH39197.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv952174 Chr.12:49018918 - 49054617 on Build GRCh38 Deletion KMT2D PRKAG1
nsv832404 Chr.12:48864777 - 49064772 on Build GRCh38 Gain FKBP11 WNT1 RHEBL1 KMT2D PRKAG1 ARF3 CCDC65 DDN WNT10B RND1
esv2662608 Chr.12:49018462 - 49021809 on Build GRCh38 Deletion KMT2D PRKAG1
nsv700 Chr.12:49019535 - 49050142 on Build GRCh38 Insertion KMT2D
nsv558833 Chr.12:48965097 - 49085029 on Build GRCh38 Loss WNT1 RHEBL1 KMT2D PRKAG1 DDN WNT10B

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