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 | 19161 | NP_003473.3 |
| XM_005269162.4 | 55 | 20440 | XP_005269219.1 | |
| XM_006719614.3 | 55 | 20449 | XP_006719677.1 | |
| XM_006719616.3 | 55 | 20437 | XP_006719679.1 | |
| XM_011538770.2 | 56 | 20500 | XP_011537072.1 | |
| XM_011538771.2 | 56 | 20497 | XP_011537073.1 | |
| XM_011538772.2 | 56 | 20491 | XP_011537074.1 | |
| XM_011538773.2 | 56 | 20488 | XP_011537075.1 | |
| XM_011538774.2 | 56 | 20480 | XP_011537076.1 | |
| XM_011538776.2 | 56 | 20407 | XP_011537078.1 | |
| AL359940.1 | ||||
| BC039197.2 | 7 | 3737 | AAH39197.1 | |
| CR749712.1 |
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 |
|
| nsv832404 | Chr.12:48864777 - 49064772 on Build GRCh38 | Gain |
|
| dgv814n106 | Chr.12:49019017 - 49021417 on Build GRCh38 | Deletion |
|
| nsv1069663 | Chr.12:49018916 - 49021517 on Build GRCh38 | Deletion |
|
| esv2662608 | Chr.12:49018462 - 49021809 on Build GRCh38 | Deletion |
|
| nsv558833 | Chr.12:48965097 - 49085029 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map