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 | SPATA22 OR1A1 OR1E1 OR3A1 TRPV3 OR1A2 OR1E2 OR1D4 OR3A4P TRPV1 ASPA OR3A3 OR3A2 |
nsv574237 | Chr.17:3486822 - 3729542 on Build GRCh38 | Loss | SPATA22 SHPK GSG2 TAX1BP3 TRPV1 ITGAE ASPA EMC6 P2RX5 CTNS P2RX5-TAX1BP3 TRPV3 |
nsv1065489 | Chr.17:2631416 - 3948349 on Build GRCh38 | Gain | LOC101927911 SPATA22 SHPK P2RX1 ATP2A3 LOC105371592 P2RX5 CTNS TRPV3 LOC105371591 CLUH OR1D4 OR1G1 GSG2 OR3A4P ITGAE OR3A3 OR1D2 OR3A2 CAMKK1 NCBP3 CCDC92B OR1A1 OR1E1 OR3A1 TAX1BP3 EMC6 OR1A2 RAP1GAP2 OR1E2 PAFAH1B1 MIR6776 MIR1253 OR1D5 TRPV1 ASPA P2RX5-TAX1BP3 |
nsv574232 | Chr.17:3254715 - 3503170 on Build GRCh38 | Gain | SPATA22 OR1E2 OR1E1 OR3A1 OR3A4P ASPA OR3A3 OR3A2 |
esv2660206 | Chr.17:2679367 - 3519614 on Build GRCh38 | Deletion | LOC101927911 SPATA22 CCDC92B OR1A1 OR1E1 OR3A1 LOC105371592 TRPV3 OR1A2 LOC105371591 RAP1GAP2 OR1E2 CLUH OR1D4 OR1G1 PAFAH1B1 OR3A4P MIR6776 MIR1253 OR1D5 ASPA OR3A3 OR1D2 OR3A2 |
nsv1055740 | Chr.17:3381841 - 3890153 on Build GRCh38 | Gain | CAMKK1 NCBP3 SPATA22 SHPK OR1E1 TAX1BP3 EMC6 P2RX5 CTNS TRPV3 OR1E2 GSG2 TRPV1 ITGAE ASPA OR3A3 P2RX5-TAX1BP3 OR3A2 |
nsv528368 | Chr.17:3459775 - 3507608 on Build GRCh38 | Gain | SPATA22 ASPA |
nsv833341 | Chr.17:3352243 - 3521390 on Build GRCh38 | Loss | SPATA22 OR1E2 OR1E1 ASPA OR3A3 TRPV3 OR3A2 |
nsv1060071 | Chr.17:3398474 - 3633472 on Build GRCh38 | Loss | SPATA22 SHPK OR1E2 TRPV1 ASPA OR3A3 TRPV3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |