Assay Details
Target Gene Details
Entrez Gene ID: | 27344 |
Gene Name: | proprotein convertase subtilisin/kexin type 1 inhibitor |
Gene Aliases: |
BigLEN, PEN, PROSAAS, SAAS, SCG8, SgVIII |
Location: |
Chr.X:48831092-48835638 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PCSK1N | NM_013271.4 | NP_037403.1 | ||
| AF181562.1 | AAF22643.1 | |||
| BC002851.2 | AAH02851.1 | |||
| BX459856.2 | ||||
| HY114016.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv528292 | Chr.X:48433286 - 49274368 on Build GRCh38 | Gain |
|
| esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain |
|
| esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss |
|
More Information
Set Membership: |
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Genomic Map