Hs02665353_cn

• Gene Symbol: ESD
• Assay Reference Genome Location: Chr.13:46779950 on build GRCh38
• Cytoband: 13q14.2

Target Gene Details

• Entrez Gene ID: 2098
• Gene Name: esterase D
• Gene Aliases: FGH
• Location: Chr.13:46771256-46797681 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ESD	NM_001984.1			NP_001975.1
	XM_005266278.2			XP_005266335.1
	XM_011534954.1			XP_011533256.1
	XM_017020414.1			XP_016875903.1
	AF112219.1			AAC99788.1
	AK093643.1
	AK098540.1
	BC001169.1			AAH01169.1
	BT007059.1			AAP35708.1
	M13450.1			AAA52408.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2763019	Chr.13:46774094 - 47549312 on Build GRCh38	Loss	HTR2A-AS1 HTR2A ESD
esv3892341	Chr.13:46772158 - 46817818 on Build GRCh38	Gain	ESD

More Information

Additional Information:

For this assay, SNP(s) [rs189235653] 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 -

protease, serine protease, protein modifying enzyme

Gene Ontology Categories:

Process(es)

biological_process
formaldehyde catabolic process
glutathione derivative biosynthetic process

Function(s)

protein binding
hydrolase activity, acting on ester bonds
S-formylglutathione hydrolase activity
methylumbelliferyl-acetate deacetylase activity
carboxylic ester hydrolase activity