Hs04588822_cn

• Gene Symbol: PSD4
• Assay Reference Genome Location: Chr.2:113160603 on build GRCh38
• Cytoband: 2q14.1

Target Gene Details

• Entrez Gene ID: 23550
• Gene Name: pleckstrin and Sec7 domain containing 4
• Gene Aliases: EFA6B, TIC
• Location: Chr.2:113157399-113203229 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PSD4	XM_005263634.2			XP_005263691.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv582711	Chr.2:113137939 - 113226926 on Build GRCh38	Loss	PAX8 PSD4

More Information

Additional Information:

For this assay, SNP(s) [rs73955169] 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 -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

regulation of ARF protein signal transduction
positive regulation of GTPase activity

Function(s)

ARF guanyl-nucleotide exchange factor activity
phospholipid binding