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 5 |
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 TRPV3 OR1A2 OR1E2 OR3A2 SPATA22 OR3A4P OR3A1 OR1D4 OR3A3 OR1E1 OR1A1 ASPA |
nsv1065489 | Chr.17:2631416 - 3948349 on Build GRCh38 | Gain | TRPV1 CLUH OR1G1 LOC101927911 OR1E2 CAMKK1 RAP1GAP2 CCDC92B NCBP3 PAFAH1B1 OR3A2 SPATA22 OR3A4P OR3A1 GSG2 OR1D5 LOC105371591 SHPK OR3A3 MIR1253 TRPV3 OR1A2 EMC6 P2RX5 P2RX1 MIR6776 TAX1BP3 OR1D2 LOC105371592 ITGAE P2RX5-TAX1BP3 CTNS ATP2A3 OR1D4 OR1E1 OR1A1 ASPA |
nsv574232 | Chr.17:3254715 - 3503170 on Build GRCh38 | Gain | OR1E2 OR3A3 OR1E1 OR3A2 ASPA SPATA22 OR3A4P OR3A1 |
esv2660206 | Chr.17:2679367 - 3519614 on Build GRCh38 | Deletion | TRPV3 CLUH OR1G1 LOC101927911 OR1A2 OR1E2 RAP1GAP2 CCDC92B MIR6776 OR1D2 PAFAH1B1 LOC105371592 OR3A2 SPATA22 OR3A4P OR3A1 OR1D5 LOC105371591 OR1D4 OR3A3 OR1E1 MIR1253 OR1A1 ASPA |
nsv1055740 | Chr.17:3381841 - 3890153 on Build GRCh38 | Gain | TRPV1 TRPV3 OR1E2 EMC6 P2RX5 CAMKK1 TAX1BP3 NCBP3 OR3A2 ITGAE SPATA22 P2RX5-TAX1BP3 GSG2 CTNS SHPK OR3A3 OR1E1 ASPA |
nsv528368 | Chr.17:3459775 - 3507608 on Build GRCh38 | Gain | ASPA SPATA22 |
nsv833341 | Chr.17:3352243 - 3521390 on Build GRCh38 | Loss | TRPV3 OR1E2 OR3A3 OR1E1 OR3A2 ASPA SPATA22 |
nsv1060071 | Chr.17:3398474 - 3633472 on Build GRCh38 | Loss | TRPV1 TRPV3 SHPK OR1E2 OR3A3 ASPA SPATA22 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |