Hs02012822_cn

• Gene Symbol: CATSPER4
• Assay Reference Genome Location: Chr.1:26193875 on build GRCh38
• Cytoband: 1p36.11

Target Gene Details

• Entrez Gene ID: 378807
• Gene Name: cation channel sperm associated 4
• Gene Aliases: -
• Location: Chr.1:26189962-26202542 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CATSPER4	NM_198137.1			NP_937770.1
	XM_011541432.2			XP_011539734.1
	XM_011541433.2			XP_011539735.1
	BC128138.1
	BC128139.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1002191	Chr.1:26149030 - 26219160 on Build GRCh38	Gain	ZNF593 CATSPER4 CNKSR1 FAM110D
esv3577794	Chr.1:26190094 - 26197572 on Build GRCh38	Loss	CATSPER4
esv3577792	Chr.1:26184821 - 26198215 on Build GRCh38	Loss	CATSPER4 CNKSR1

More Information

Additional Information:

For this assay, SNP(s) [rs76511895] 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

Gene Ontology Categories:

Process(es)

multicellular organism development
neuronal action potential
sperm motility
response to progesterone
regulation of ion transmembrane transport
sperm-egg recognition
sodium ion transmembrane transport
sperm capacitation
regulation of postsynaptic membrane potential
calcium ion transmembrane transport
membrane depolarization during action potential

Function(s)

calcium activated cation channel activity
voltage-gated calcium channel activity
voltage-gated sodium channel activity