Hs01411210_cn

• Gene Symbol: EHHADH
• Assay Reference Genome Location: Chr.3:185191601 on build GRCh38
• Cytoband: 3q27.2

Target Gene Details

• Entrez Gene ID: 1962
• Gene Name: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
• Gene Aliases: ECHD, FRTS3, L-PBE, LBFP, LBP, PBFE
• Location: Chr.3:185190624-185282886 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EHHADH	NM_001166415.1	7	2996	NP_001159887.1
	NM_001966.3	7	2873	NP_001957.2
	XM_006713525.1	8	2855	XP_006713588.1
	XM_011512517.1	7	3700	XP_011510819.1
	XM_017005839.1	8	3731	XP_016861328.1
	AK291798.1	7	2824
	BC038948.1	7	2814	AAH38948.1
	L07077.1	7	2804	AAA53289.1

Target Gene Details

• Entrez Gene ID: 339926
• Gene Name: EHHADH antisense RNA 1
• Gene Aliases: -
• Location: Chr.3:185162901-185191955 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EHHADH-AS1	NR_038990.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv5002n100	Chr.3:185129229 - 185287036 on Build GRCh38	Gain	EHHADH-AS1 C3orf70 MIR5588 EHHADH MAP3K13
esv3598965	Chr.3:185185472 - 185197830 on Build GRCh38	Gain	EHHADH-AS1 EHHADH

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

internal protein amino acid acetylation
fatty acid beta-oxidation
cellular lipid metabolic process

Function(s)

3-hydroxyacyl-CoA dehydrogenase activity
dodecenoyl-CoA delta-isomerase activity
enoyl-CoA hydratase activity
receptor binding
protein binding
long-chain-enoyl-CoA hydratase activity
enzyme binding