Hs05521752_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3445709 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 8

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

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	ASPA OR3A1 TRPV3 OR1A1 OR3A3 SPATA22 OR1E1 TRPV1 OR1D4 OR1E2 OR1A2 OR3A2 OR3A4P
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	CLUH ASPA CTNS ATP2A3 OR3A1 MIR6776 OR1A1 OR3A3 OR1E1 MIR1253 TRPV1 OR1G1 TAX1BP3 CCDC92B OR1D5 EMC6 OR3A2 LOC105371591 GSG2 CAMKK1 P2RX5-TAX1BP3 ITGAE P2RX1 TRPV3 SHPK PAFAH1B1 SPATA22 OR1D4 OR1D2 OR1E2 LOC105371592 P2RX5 OR1A2 NCBP3 LOC101927911 RAP1GAP2 OR3A4P
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	ASPA OR3A1 OR1E2 OR3A2 OR3A3 SPATA22 OR1E1 OR3A4P
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	CLUH ASPA LOC105371591 OR3A1 MIR6776 TRPV3 PAFAH1B1 OR1A1 OR3A3 SPATA22 OR1E1 MIR1253 OR1G1 OR1D4 OR1D2 OR1E2 LOC105371592 CCDC92B OR1D5 OR1A2 LOC101927911 OR3A2 RAP1GAP2 OR3A4P
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	ASPA CTNS GSG2 CAMKK1 P2RX5-TAX1BP3 ITGAE TRPV3 SHPK OR3A3 SPATA22 OR1E1 TRPV1 OR1E2 TAX1BP3 EMC6 P2RX5 NCBP3 OR3A2
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	ASPA OR1E2 TRPV3 OR3A2 OR3A3 SPATA22 OR1E1
nsv574236	Chr.17:3390044 - 3459775 on Build GRCh38	Gain	OR1E2 OR3A3 SPATA22 OR1E1
nsv1059413	Chr.17:3365789 - 3453922 on Build GRCh38	Loss	OR1E2 OR3A2 OR3A3 SPATA22 OR1E1
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	TRPV1 ASPA OR1E2 TRPV3 SHPK OR3A3 SPATA22

More Information

Additional Information:

For this assay, SNP(s) [rs73297714] 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