Assay Details
Target Gene Details
Entrez Gene ID: | 254013 |
Gene Name: | electron transfer flavoprotein beta subunit lysine methyltransferase |
Gene Aliases: |
C12orf72, ETFB-KMT, METTL20 |
Location: |
Chr.12:31647160-31669082 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ETFBKMT | NM_001135864.1 | NP_001129336.1 | ||
AK290248.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2760267 | Chr.12:31473798 - 31756974 on Build GRCh38 | Gain+Loss | DENND5B AMN1 DENND5B-AS1 ETFBKMT |
esv3629050 | Chr.12:31639465 - 31647416 on Build GRCh38 | Gain | ETFBKMT |
esv3629051 | Chr.12:31646569 - 31648924 on Build GRCh38 | Loss | ETFBKMT |
esv3581338 | Chr.12:31636660 - 31655272 on Build GRCh38 | Gain | ETFBKMT |
nsv662 | Chr.12:31642332 - 31676288 on Build GRCh38 | Insertion | AMN1 ETFBKMT |
nsv832365 | Chr.12:31489877 - 31655598 on Build GRCh38 | Loss | DENND5B DENND5B-AS1 ETFBKMT |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |