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: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ETFBKMT | NM_001135863.1 | 2 | 334 | NP_001129335.1 |
NM_001135864.1 | 2 | 315 | NP_001129336.1 | |
NM_173802.3 | 2 | 395 | NP_776163.1 | |
AK290248.1 | 2 | 316 | ||
AL832339.1 | 2 | 321 | ||
BC039107.1 | 3 | 786 | AAH39107.1 | |
BC039535.1 | 2 | 395 | AAH39535.1 | |
DA303137.1 | 2 | 334 |
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-AS1 AMN1 ETFBKMT DENND5B |
nsv662 | Chr.12:31642332 - 31676288 on Build GRCh38 | Insertion | AMN1 ETFBKMT |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |