Hs06413529_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3461441 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 84690
• Gene Name: spermatogenesis associated 22
• Gene Aliases: NYD-SP20, NYDSP20
• Location: Chr.17:3440011-3513852 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATA22	NM_001170695.1			NP_001164166.1
	NM_001170696.1			NP_001164167.1
	NM_001170697.1			NP_001164168.1
	NM_001170698.1			NP_001164169.1
	NM_001170699.1			NP_001164170.1
	NM_001321336.1			NP_001308265.1
	NM_001321337.1			NP_001308266.1
	NM_032598.4			NP_115987.2
	AF367472.1			AAK53408.1
	AK295299.1
	AK301892.1
	AY032684.1			AAK51120.1
	AY035867.1			AAK61373.1
	AY035868.1			AAK61374.1
	BC029483.1			AAH29483.1
	BG716998.1
	BI463957.1
	BP371122.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892950	Chr.17:3131812 - 3577153 on Build GRCh38	Loss	OR1A1 OR3A2 OR1E1 OR1D4 OR3A4P OR1A2 OR3A1 OR3A3 ASPA SPATA22 TRPV1 OR1E2 TRPV3
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	OR1A1 PAFAH1B1 OR3A2 OR1E1 SHPK OR1A2 OR3A1 CAMKK1 OR3A3 P2RX1 OR1D2 GSG2 OR1G1 P2RX5-TAX1BP3 NCBP3 CTNS P2RX5 SPATA22 LOC105371592 TRPV1 OR1E2 OR1D5 TRPV3 EMC6 OR1D4 OR3A4P MIR6776 ITGAE ASPA RAP1GAP2 LOC101927911 CCDC92B MIR1253 ATP2A3 CLUH LOC105371591 TAX1BP3
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A2 OR1E1 SPATA22 OR3A4P OR3A1 OR1E2 OR3A3 ASPA
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1A1 PAFAH1B1 OR3A2 OR1E1 OR1D4 OR3A4P OR1A2 OR3A1 OR3A3 MIR6776 OR1D2 ASPA RAP1GAP2 OR1G1 LOC101927911 CCDC92B SPATA22 LOC105371592 MIR1253 OR1E2 OR1D5 CLUH LOC105371591 TRPV3
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	OR3A2 OR1E1 SHPK EMC6 CAMKK1 OR3A3 GSG2 ITGAE ASPA P2RX5-TAX1BP3 NCBP3 CTNS P2RX5 SPATA22 TRPV1 OR1E2 TAX1BP3 TRPV3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR3A2 OR1E1 SPATA22 OR1E2 OR3A3 TRPV3 ASPA
nsv521277	Chr.17:3390044 - 3468885 on Build GRCh38	Gain	OR1E1 SPATA22 OR1E2 OR3A3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SHPK SPATA22 TRPV1 OR1E2 OR3A3 TRPV3 ASPA

More Information

Additional Information:

For this assay, SNP(s) [rs73977731] 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)

meiotic DNA repair synthesis
synapsis
gamete generation
fertilization
regulation of meiotic cell cycle
reproductive system development

Function(s)

protein binding