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 | 2813 | NP_000299.2 |
NM_001127695.2 | 15 | 2859 | NP_001121167.1 | |
NM_001167594.2 | 14 | 2762 | NP_001161066.1 | |
NR_133656.1 | 15 | 2820 | ||
AB209705.2 | 15 | 1629 | BAD92942.1 | |
AF086236.1 | 2 | 244 | ||
AK055177.1 | 2 | 1945 | ||
AK097786.1 | 14 | 1526 | ||
AK172808.1 | 15 | 2817 | ||
BC000597.2 | 15 | 1615 | AAH00597.1 | |
BC093009.1 | 15 | 1622 | AAH93009.1 | |
M22960.1 | 14 | 1583 | 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: | Overlaps - Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLTP | NM_001242920.1 | NP_001229849.1 | ||
NM_001242921.1 | NP_001229850.1 | |||
NM_006227.3 | NP_006218.1 | |||
NM_182676.2 | NP_872617.1 | |||
AK293150.1 |
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 |
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nsv517296 | Chr.20:45854586 - 45965936 on Build GRCh38 | Loss |
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nsv833990 | Chr.20:45771510 - 45946844 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)