Hs07176648_cn

• Gene Symbol: SPEF1
• Assay Reference Genome Location: Chr.20:3780750 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 25876
• Gene Name: sperm flagellar 1
• Gene Aliases: C20orf28, CLAMP, SPEF1A
• Location: Chr.20:3777504-3781466 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPEF1	NM_015417.4			NP_056232.2
	XM_005260683.4			XP_005260740.1
	AK313766.1
	AL080154.1			CAB45745.1
	BC022476.1			AAH22476.1
	BI520334.1
	DB030684.1
	DB033051.1
	EF560745.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833899	Chr.20:3709295 - 3878350 on Build GRCh38	Loss	SPEF1 C20orf27 SIGLEC1 HSPA12B LOC101929125 CENPB MAVS CDC25B AP5S1
nsv828673	Chr.20:3738382 - 4184811 on Build GRCh38	Gain	RNF24 MIR103B2 LOC101929125 MIR103A2 AP5S1 SPEF1 C20orf27 HSPA12B CENPB MAVS CDC25B PANK2 SMOX
nsv585286	Chr.20:3747323 - 3803946 on Build GRCh38	Loss	SPEF1 C20orf27 HSPA12B CENPB CDC25B
nsv585285	Chr.20:3705789 - 3791211 on Build GRCh38	Loss	SPEF1 C20orf27 SIGLEC1 HSPA12B CENPB CDC25B

More Information

Additional Information:

For this assay, SNP(s) [rs199665988] 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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

molecular_function
protein binding