Assay Details
Target Gene Details
Entrez Gene ID: | 443 |
Gene Name: | aspartoacylase |
Gene Aliases: |
ACY2, ASP |
Location: |
Chr.17:3474106-3502534 on Build GRCh38 |
Assay Gene Location: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ASPA | NM_000049.2 | NP_000040.1 | ||
NM_001128085.1 | NP_001121557.1 | |||
XM_017024661.1 | XP_016880150.1 | |||
AK312901.1 | ||||
BC029128.1 | AAH29128.1 | |||
CR541908.1 | CAG46706.1 | |||
S67156.1 | AAB29190.1 |
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 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 | OR3A2 OR1E1 SPATA22 OR1D4 TRPV1 ASPA OR1A2 OR3A3 OR1A1 OR3A4P TRPV3 OR1E2 OR3A1 |
nsv574237 | Chr.17:3486822 - 3729542 on Build GRCh38 | Loss | SPATA22 SHPK CTNS TRPV3 TRPV1 ASPA ITGAE P2RX5-TAX1BP3 GSG2 EMC6 TAX1BP3 P2RX5 |
nsv1065489 | Chr.17:2631416 - 3948349 on Build GRCh38 | Gain | MIR1253 OR1D4 TRPV1 ITGAE P2RX5-TAX1BP3 EMC6 P2RX5 OR3A3 OR3A4P CTNS TRPV3 NCBP3 CAMKK1 OR3A1 GSG2 TAX1BP3 OR3A2 OR1E1 MIR6776 CCDC92B SPATA22 ASPA LOC101927911 OR1D5 ATP2A3 LOC105371591 OR1A2 OR1A1 SHPK PAFAH1B1 LOC105371592 RAP1GAP2 OR1G1 OR1E2 P2RX1 CLUH OR1D2 |
nsv574232 | Chr.17:3254715 - 3503170 on Build GRCh38 | Gain | OR3A2 OR1E1 OR3A3 SPATA22 OR3A4P ASPA OR1E2 OR3A1 |
esv2660206 | Chr.17:2679367 - 3519614 on Build GRCh38 | Deletion | OR3A2 OR1E1 MIR6776 CCDC92B MIR1253 SPATA22 OR1D4 ASPA LOC101927911 OR1D5 LOC105371591 OR1A2 OR3A3 OR1A1 PAFAH1B1 OR3A4P TRPV3 LOC105371592 RAP1GAP2 OR1G1 OR1E2 OR3A1 CLUH OR1D2 |
nsv1055740 | Chr.17:3381841 - 3890153 on Build GRCh38 | Gain | OR3A2 OR1E1 SPATA22 TRPV1 ASPA ITGAE P2RX5-TAX1BP3 EMC6 P2RX5 OR3A3 SHPK CTNS TRPV3 NCBP3 CAMKK1 OR1E2 GSG2 TAX1BP3 |
nsv528368 | Chr.17:3459775 - 3507608 on Build GRCh38 | Gain | SPATA22 ASPA |
nsv833341 | Chr.17:3352243 - 3521390 on Build GRCh38 | Loss | OR3A2 OR1E1 OR3A3 SPATA22 TRPV3 ASPA OR1E2 |
nsv1060071 | Chr.17:3398474 - 3633472 on Build GRCh38 | Loss | OR3A3 SPATA22 SHPK TRPV3 TRPV1 ASPA OR1E2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |