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 49 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| KMT2D | NM_003482.3 | 48 | 14928 | NP_003473.3 |
| XM_005269162.4 | 49 | 16207 | XP_005269219.1 | |
| XM_006719614.3 | 49 | 16216 | XP_006719677.1 | |
| XM_006719616.3 | 49 | 16204 | XP_006719679.1 | |
| XM_011538770.2 | 49 | 16219 | XP_011537072.1 | |
| XM_011538771.2 | 49 | 16216 | XP_011537073.1 | |
| XM_011538772.2 | 49 | 16210 | XP_011537074.1 | |
| XM_011538773.2 | 49 | 16207 | XP_011537075.1 | |
| XM_011538774.2 | 49 | 16199 | XP_011537076.1 | |
| XM_011538776.2 | 49 | 16126 | XP_011537078.1 | |
| AB209494.1 | 15 | 6430 | BAD92731.1 | |
| AF010403.1 | 48 | 14103 | AAC51734.1 | |
| AF010404.1 | 39 | 13188 | AAC51735.1 |
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 |
|
| nsv700 | Chr.12:49019535 - 49050142 on Build GRCh38 | Insertion |
|
| nsv558833 | Chr.12:48965097 - 49085029 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map