Hs06976196_cn

• Gene Symbol: ETFBKMT
• Assay Reference Genome Location: Chr.12:31653435 on build GRCh38
• Cytoband: 12p11.21

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 Intron 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-AS1 AMN1 ETFBKMT DENND5B
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-AS1 ETFBKMT DENND5B

More Information

Additional Information:

For this assay, SNP(s) [rs200966020] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

methyltransferase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

peptidyl-lysine methylation
peptidyl-lysine trimethylation
negative regulation of electron carrier activity
negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase

Function(s)

protein-lysine N-methyltransferase activity