Hs05320962_cn

• Gene Symbol: ETFA
• Assay Reference Genome Location: Chr.15:76236651 on build GRCh38
• Cytoband: 15q24.2

Target Gene Details

• Entrez Gene ID: 2108
• Gene Name: electron transfer flavoprotein alpha subunit
• Gene Aliases: EMA, GA2, MADD
• Location: Chr.15:76216228-76311469 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ETFA	NM_000126.3			NP_000117.1
	NM_001127716.1			NP_001121188.1
	AA557337.1
	AK292979.1
	AK300044.1
	BC015526.1			AAH15526.1
	BC095457.1			AAH95457.1
	BT009796.1			AAP88798.1
	BU176141.1
	J04058.1			AAA52406.1
	KU178046.1
	KU178047.1
	KU178048.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2749895	Chr.15:75415580 - 76472296 on Build GRCh38	Deletion	ODF3L1 SIN3A ISL2 SNUPN SCAPER FBXO22-AS1 LOC441728 LOC107984799 LOC101929439 ETFA TYRO3P MIR4313 DNM1P35 NRG4 TMEM266 UBE2Q2 PTPN9 FBXO22 CSPG4 IMP3 SNX33
nsv569998	Chr.15:75940264 - 76258597 on Build GRCh38	Gain	NRG4 TMEM266 LOC101929439 ETFA
nsv1618	Chr.15:76206324 - 76240497 on Build GRCh38	Insertion	ETFA
nsv833057	Chr.15:76075507 - 76293527 on Build GRCh38	Loss	TYRO3P TMEM266 LOC101929439 ETFA
esv2749898	Chr.15:75764003 - 77933523 on Build GRCh38	Deletion	ISL2 LINGO1-AS2 SCAPER FBXO22-AS1 LOC441728 PEAK1 HMG20A LOC101929439 ETFA LOC101929457 TSPAN3 RCN2 TYRO3P LINC00597 PSTPIP1 NRG4 TMEM266 UBE2Q2 MIR3713 LINGO1 FBXO22 LOC645752 LINGO1-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs111849590] 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 -

oxidoreductase

Gene Ontology Categories:

Process(es)

respiratory electron transport chain
fatty acid beta-oxidation using acyl-CoA dehydrogenase
lipid homeostasis

Function(s)

fatty-acyl-CoA binding
acyl-CoA dehydrogenase activity
electron carrier activity
oxidoreductase activity
flavin adenine dinucleotide binding
oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor