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 3 |
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 | TRPV1 SPATA22 OR3A4P OR3A3 OR1E1 OR1D4 OR1A2 OR1A1 ASPA OR3A1 OR3A2 OR1E2 TRPV3 |
nsv1065489 | Chr.17:2631416 - 3948349 on Build GRCh38 | Gain | TRPV1 OR3A4P ATP2A3 OR1A2 LOC105371591 CTNS ASPA CCDC92B OR1D5 CAMKK1 P2RX1 OR3A1 OR3A2 OR1E2 LOC101927911 CLUH PAFAH1B1 GSG2 SPATA22 OR1G1 OR3A3 OR1E1 OR1D4 OR1A1 P2RX5-TAX1BP3 NCBP3 MIR1253 OR1D2 RAP1GAP2 MIR6776 EMC6 P2RX5 LOC105371592 ITGAE SHPK TAX1BP3 TRPV3 |
nsv574232 | Chr.17:3254715 - 3503170 on Build GRCh38 | Gain | SPATA22 OR3A4P OR3A1 OR3A3 OR1E1 OR3A2 OR1E2 ASPA |
esv2660206 | Chr.17:2679367 - 3519614 on Build GRCh38 | Deletion | SPATA22 OR1G1 OR3A4P OR3A3 OR1E1 OR1D4 OR1A2 OR1A1 LOC105371591 ASPA CCDC92B OR1D5 MIR1253 OR1D2 RAP1GAP2 MIR6776 OR3A1 LOC105371592 OR3A2 OR1E2 LOC101927911 CLUH PAFAH1B1 TRPV3 |
nsv1055740 | Chr.17:3381841 - 3890153 on Build GRCh38 | Gain | GSG2 TRPV1 SPATA22 OR3A3 OR1E1 CTNS P2RX5-TAX1BP3 NCBP3 ASPA CAMKK1 EMC6 P2RX5 OR3A2 OR1E2 ITGAE SHPK TAX1BP3 TRPV3 |
nsv528368 | Chr.17:3459775 - 3507608 on Build GRCh38 | Gain | SPATA22 ASPA |
nsv833341 | Chr.17:3352243 - 3521390 on Build GRCh38 | Loss | SPATA22 OR3A3 OR1E1 OR3A2 OR1E2 ASPA TRPV3 |
nsv1060071 | Chr.17:3398474 - 3633472 on Build GRCh38 | Loss | TRPV1 SPATA22 OR3A3 OR1E2 SHPK ASPA TRPV3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |