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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ETFBKMT | NM_001135863.1 | 4 | 984 | NP_001129335.1 |
NM_001135864.1 | 4 | 965 | NP_001129336.1 | |
NM_173802.3 | 4 | 1045 | NP_776163.1 | |
AK290248.1 | 4 | 966 | ||
AL832339.1 | 4 | 971 | ||
BC039107.1 | 5 | 1436 | AAH39107.1 | |
BC039535.1 | 4 | 1045 | AAH39535.1 |
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 | ETFBKMT DENND5B AMN1 DENND5B-AS1 |
nsv662 | Chr.12:31642332 - 31676288 on Build GRCh38 | Insertion | ETFBKMT AMN1 |
More Information
Additional Information:
For this assay, SNP(s) [rs115438422] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |