Hs03335992_cn

• Gene Symbol: ECHDC2
• Assay Reference Genome Location: Chr.1:52915147 on build GRCh38
• Cytoband: 1p32.3

Target Gene Details

• Entrez Gene ID: 55268
• Gene Name: enoyl-CoA hydratase domain containing 2
• Gene Aliases: -
• Location: Chr.1:52895910-52927212 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ECHDC2	NM_001198961.1			NP_001185890.1
	NM_001198962.1			NP_001185891.1
	NM_001319958.1			NP_001306887.1
	NM_018281.3			NP_060751.2
	XM_011541709.2			XP_011540011.1
	XM_011541710.2			XP_011540012.1
	XM_011541711.2			XP_011540013.1
	XM_011541712.2			XP_011540014.1
	XM_011541713.2	1	2727	XP_011540015.1
	XM_011541715.2			XP_011540017.1
	XM_011541719.2			XP_011540021.1
	XM_011541720.2	1	2727	XP_011540022.1
	XM_011541721.2			XP_011540023.1
	XM_011541722.2			XP_011540024.1
	XM_011541723.2			XP_011540025.1
	XM_011541724.2			XP_011540026.1
	XM_011541725.2			XP_011540027.1
	XM_011541726.2	1	2727	XP_011540028.1
	XM_011541727.2	1	2727	XP_011540029.1
	XM_017001638.1			XP_016857127.1
	XM_017001639.1			XP_016857128.1
	XM_017001641.1			XP_016857130.1
	XM_017001642.1	1	2727	XP_016857131.1
	AK001810.1			BAA91922.1
	AK299834.1
	AK300896.1
	AK302285.1
	AK309535.1
	AK310650.1
	AK315906.1
	BC044574.1			AAH44574.1
	BC051887.1			AAH51887.1
	CF127686.1
	DA868944.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1001535	Chr.1:52620368 - 53346539 on Build GRCh38	Gain	LOC105378732 PODN MAGOH CPT2 SLC1A7 ECHDC2 COA7 SCP2 ZYG11A MIR1273G MIR1273F C1orf123 FAM159A LRP8 MIR5095 ZYG11B LOC100507564
nsv829859	Chr.1:52723470 - 52925273 on Build GRCh38	Loss	ECHDC2 ZYG11B ZYG11A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

hydratase

Gene Ontology Categories:

Process(es)

fatty acid beta-oxidation

Function(s)

enoyl-CoA hydratase activity