Hs01760456_cn

• Gene Symbol: ECH1
• Assay Reference Genome Location: Chr.19:38815472 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 1891
• Gene Name: enoyl-CoA hydratase 1
• Gene Aliases: HPXEL
• Location: Chr.19:38815422-38831857 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ECH1	NM_001398.2			NP_001389.2
	XM_017026448.1			XP_016881937.1
	AK126566.1
	AK291860.1
	AV738478.1
	BC011792.2			AAH11792.1
	BC017408.1			AAH17408.1
	U16660.1			AAC50222.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9722	Chr.19:38807433 - 38816933 on Build GRCh38	Gain	LGALS4 ECH1

More Information

Additional Information:

For this assay, SNP(s) [rs200875247] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

hydratase, lyase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

fatty acid beta-oxidation
fatty acid catabolic process

Function(s)

receptor binding
protein binding
isomerase activity