Hs07536033_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3512133 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATA22	NM_001321336.1			NP_001308265.1
	NM_001321337.1			NP_001308266.1
	AK295299.1

Target Gene Details

• Entrez Gene ID: 162514
• Gene Name: transient receptor potential cation channel subfamily V member 3
• Gene Aliases: FNEPPK2, OLMS, VRL3
• Location: Chr.17:3510502-3557995 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRPV3	NM_001258205.1	18	4482	NP_001245134.1
	NM_145068.3	18	4479	NP_659505.1
	AK127330.1	6	2478
	AK127726.1	12	3431
	BX537539.1	12	3419

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 ASPA OR1A2 OR1D4 OR3A1 OR3A3 OR3A2 SPATA22 TRPV1 OR1E1 TRPV3 OR1E2 OR3A4P
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	EMC6 ITGAE RAP1GAP2 OR1A1 CLUH MIR6776 OR1A2 NCBP3 OR3A3 TAX1BP3 OR3A2 P2RX5 LOC105371592 CTNS P2RX1 OR1E2 CCDC92B OR3A4P OR1D5 OR1G1 ASPA MIR1253 OR1D4 CAMKK1 OR3A1 P2RX5-TAX1BP3 LOC101927911 SPATA22 OR1D2 PAFAH1B1 TRPV1 SHPK OR1E1 TRPV3 LOC105371591 ATP2A3 GSG2
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	SPATA22 EMC6 ITGAE ASPA P2RX5 TRPV1 SHPK CTNS TRPV3 P2RX5-TAX1BP3 TAX1BP3 GSG2
esv23898	Chr.17:3511464 - 3512895 on Build GRCh38	Gain	SPATA22 TRPV3
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1G1 RAP1GAP2 OR1A1 CLUH MIR6776 ASPA MIR1253 OR1A2 OR1D4 OR3A1 LOC101927911 OR3A3 OR3A2 SPATA22 OR1D2 PAFAH1B1 LOC105371592 OR1E1 TRPV3 OR1E2 CCDC92B OR3A4P OR1D5 LOC105371591
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	EMC6 ITGAE ASPA NCBP3 CAMKK1 P2RX5-TAX1BP3 OR3A3 TAX1BP3 OR3A2 SPATA22 P2RX5 TRPV1 SHPK CTNS OR1E1 TRPV3 OR1E2 GSG2
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR3A2 SPATA22 ASPA OR1E1 TRPV3 OR1E2 OR3A3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SPATA22 ASPA TRPV1 SHPK TRPV3 OR1E2 OR3A3

More Information

Additional Information:

For this assay, SNP(s) [rs76456640] 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, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

meiotic DNA repair synthesis
synapsis
gamete generation
fertilization
regulation of meiotic cell cycle
reproductive system development
response to heat
negative regulation of hair cycle
calcium ion transmembrane transport
positive regulation of calcium ion import

Function(s)

protein binding
calcium channel activity