Assay Details
Target Gene Details
Entrez Gene ID: | 7957 |
Gene Name: | epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) |
Gene Aliases: |
EPM2, MELF |
Location: |
Chr.6:145500744-145736018 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPM2A | XM_011536113.2 | XP_011534415.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv604838 | Chr.6:145388235 - 145520010 on Build GRCh38 | Gain | EPM2A |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |