Hs04596232_cn

• Gene Symbol: XIRP2
• Assay Reference Genome Location: Chr.2:166895485 on build GRCh38
• Cytoband: 2q24.3

Target Gene Details

• Entrez Gene ID: 129446
• Gene Name: xin actin binding repeat containing 2
• Gene Aliases: CMYA3
• Location: Chr.2:166888487-167259753 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
XIRP2	NM_001079810.3			NP_001073278.1
	NM_001199143.1			NP_001186072.1
	NM_152381.5			NP_689594.4
	AK097519.1
	DB079087.1
	EF119718.1
	EF119719.1
	EF119720.1
	EF119721.1
	EF119722.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3593265	Chr.2:166895527 - 166898159 on Build GRCh38	Loss	XIRP2
esv3593257	Chr.2:166648099 - 166928362 on Build GRCh38	Gain	XIRP2

More Information

Additional Information:

For this assay, SNP(s) [rs75313428] 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 -

actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

ventricular septum development
actin cytoskeleton organization
cell-cell junction organization
cardiac muscle tissue morphogenesis

Function(s)

actin binding
alpha-actinin binding