Assay Details
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 | 4746 | NP_001245134.1 |
NM_145068.3 | 18 | 4743 | NP_659505.1 | |
AK127330.1 | 6 | 2742 | ||
AK127726.1 | 12 | 3695 | ||
BX537539.1 | 12 | 3683 |
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 | OR3A4P TRPV3 TRPV1 OR1A2 OR3A1 OR1D4 OR1A1 OR3A2 OR3A3 ASPA SPATA22 OR1E2 OR1E1 |
nsv574237 | Chr.17:3486822 - 3729542 on Build GRCh38 | Loss | TAX1BP3 SHPK TRPV3 P2RX5-TAX1BP3 P2RX5 EMC6 TRPV1 ASPA SPATA22 CTNS GSG2 ITGAE |
nsv1065489 | Chr.17:2631416 - 3948349 on Build GRCh38 | Gain | LOC101927911 OR3A4P ATP2A3 LOC105371591 TRPV3 OR1D5 OR1A2 CCDC92B PAFAH1B1 OR1D4 SHPK OR1G1 OR1A1 P2RX5-TAX1BP3 EMC6 OR3A3 ASPA SPATA22 CLUH OR1D2 TAX1BP3 NCBP3 MIR1253 P2RX5 TRPV1 RAP1GAP2 GSG2 OR3A1 ITGAE CAMKK1 P2RX1 OR3A2 CTNS LOC105371592 OR1E2 OR1E1 MIR6776 |
esv23898 | Chr.17:3511464 - 3512895 on Build GRCh38 | Gain | TRPV3 SPATA22 |
esv2660206 | Chr.17:2679367 - 3519614 on Build GRCh38 | Deletion | LOC101927911 OR3A4P LOC105371591 MIR1253 TRPV3 OR1D5 RAP1GAP2 OR1A2 CCDC92B PAFAH1B1 OR3A1 OR1D4 OR1G1 OR1A1 OR3A2 OR3A3 ASPA SPATA22 CLUH LOC105371592 OR1E2 OR1E1 MIR6776 OR1D2 |
nsv1055740 | Chr.17:3381841 - 3890153 on Build GRCh38 | Gain | TAX1BP3 NCBP3 TRPV3 P2RX5 TRPV1 GSG2 ITGAE SHPK CAMKK1 OR3A2 P2RX5-TAX1BP3 EMC6 OR3A3 ASPA SPATA22 CTNS OR1E2 OR1E1 |
nsv833341 | Chr.17:3352243 - 3521390 on Build GRCh38 | Loss | TRPV3 OR3A2 OR3A3 ASPA SPATA22 OR1E2 OR1E1 |
nsv1060071 | Chr.17:3398474 - 3633472 on Build GRCh38 | Loss | SHPK TRPV3 OR3A3 TRPV1 ASPA SPATA22 OR1E2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |