Assay Details
Target Gene Details
Entrez Gene ID: | 5476 |
Gene Name: | cathepsin A |
Gene Aliases: |
GLB2, GSL, NGBE, PPCA, PPGB |
Location: |
Chr.20:45890144-45898820 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 8 - Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CTSA | NM_000308.3 | NP_000299.2 | ||
NM_001127695.2 | NP_001121167.1 | |||
NM_001167594.2 | NP_001161066.1 | |||
NR_133656.1 | ||||
AB209705.2 | BAD92942.1 | |||
AK097786.1 | ||||
AK172808.1 | ||||
AK304536.1 | ||||
AK307701.1 | ||||
AK312898.1 | ||||
BC000597.2 | AAH00597.1 | |||
BC093009.1 | AAH93009.1 | |||
M22960.1 | AAA36476.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833991 | Chr.20:45885631 - 46068708 on Build GRCh38 | Loss | PCIF1 NCOA5 MMP9 LOC107985388 NEURL2 ZNF335 SLC12A5 SPATA25 PLTP CTSA |
nsv517296 | Chr.20:45854586 - 45965936 on Build GRCh38 | Loss | PCIF1 LOC107985388 NEURL2 ZNF335 SPATA25 ZSWIM1 ACOT8 PLTP CTSA ZSWIM3 |
nsv833990 | Chr.20:45771510 - 45946844 on Build GRCh38 | Loss | WFDC3 PCIF1 DNTTIP1 NEURL2 UBE2C ACOT8 SNX21 CTSA ZSWIM3 LOC107985388 SPATA25 ZSWIM1 PLTP TNNC2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |