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: | Within Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CTSA | NM_000308.3 | 15 | 2961 | NP_000299.2 |
NM_001127695.2 | 15 | 3007 | NP_001121167.1 | |
NM_001167594.2 | 14 | 2910 | NP_001161066.1 | |
NR_133656.1 | 15 | 2968 | ||
AB209705.2 | 15 | 1777 | BAD92942.1 | |
AF086236.1 | 2 | 392 | ||
AK055177.1 | 2 | 2093 | ||
AK097786.1 | 14 | 1674 | ||
AK172808.1 | 15 | 2965 | ||
BC000597.2 | 15 | 1763 | AAH00597.1 | |
BC093009.1 | 15 | 1770 | AAH93009.1 | |
M22960.1 | 14 | 1731 | AAA36476.1 |
Target Gene Details
Entrez Gene ID: | 5360 |
Gene Name: | phospholipid transfer protein |
Gene Aliases: |
BPIFE, HDLCQ9 |
Location: |
Chr.20:45898620-45912364 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLTP | NM_001242920.1 | 14 | 1703 | NP_001229849.1 |
NM_001242921.1 | 14 | 1615 | NP_001229850.1 | |
NM_006227.3 | 16 | 1988 | NP_006218.1 | |
NM_182676.2 | 15 | 1832 | NP_872617.1 | |
AB076694.1 | BAB79630.1 | |||
AF052157.1 | ||||
AK092397.1 | ||||
AK097009.1 | ||||
AK222690.1 | BAD96410.1 | |||
AK293150.1 | 14 | 1531 | ||
BC005045.1 | AAH05045.1 | |||
BC019847.1 | AAH19847.1 | |||
BC019898.1 | AAH19898.1 | |||
L26232.1 | AAA36443.1 |
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 | MMP9 ZNF335 NCOA5 PLTP SLC12A5 LOC107985388 NEURL2 PCIF1 CTSA SPATA25 |
nsv517296 | Chr.20:45854586 - 45965936 on Build GRCh38 | Loss | ZSWIM3 ZNF335 ACOT8 PLTP LOC107985388 NEURL2 ZSWIM1 PCIF1 CTSA SPATA25 |
nsv833990 | Chr.20:45771510 - 45946844 on Build GRCh38 | Loss | ZSWIM3 PLTP LOC107985388 ZSWIM1 SPATA25 TNNC2 DNTTIP1 UBE2C ACOT8 WFDC3 NEURL2 PCIF1 SNX21 CTSA |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |