Hs06472793_cn

• Gene Symbol: DSG2
• Assay Reference Genome Location: Chr.18:31498385 on build GRCh38
• Cytoband: 18q12.1

Target Gene Details

• Entrez Gene ID: 1829
• Gene Name: desmoglein 2
• Gene Aliases: CDHF5, HDGC
• Location: Chr.18:31498004-31549008 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DSG2	NM_001943.4			NP_001934.2
	AK308408.1
	BC099655.3			AAH99655.1
	BC099656.3			AAH99656.1
	BC099657.3			AAH99657.1
	BP353513.1
	CN347023.1
	DC417739.1
	HY268349.1
	Z26317.1			CAA81226.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833615	Chr.18:31428433 - 31613013 on Build GRCh38	Gain	DSG2-AS1 DSG2 DSG3 TTR

More Information

Additional Information:

For this assay, SNP(s) [rs537762282] 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 -

cadherin

Gene Ontology Categories:

Process(es)

desmosome organization
Purkinje myocyte development
cell adhesion
homophilic cell adhesion via plasma membrane adhesion molecules
response to progesterone
maternal process involved in female pregnancy
bundle of His cell-Purkinje myocyte adhesion involved in cell communication
regulation of heart rate by cardiac conduction
regulation of ventricular cardiac muscle cell action potential

Function(s)

calcium ion binding
cell adhesion molecule binding
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication