Assay Details
Target Gene Details
Entrez Gene ID: | 255738 |
Gene Name: | proprotein convertase subtilisin/kexin type 9 |
Gene Aliases: |
FH3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9 |
Location: |
Chr.1:55039476-55064853 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCSK9 | NM_174936.3 | NP_777596.2 | ||
NR_110451.1 | ||||
AK075365.1 | BAC11572.1 | |||
AK122717.1 | ||||
AK293870.1 | ||||
AK297473.1 | ||||
EF692496.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv518638 | Chr.1:55044199 - 55060623 on Build GRCh38 | Loss | PCSK9 |
nsv527129 | Chr.1:55034756 - 55058311 on Build GRCh38 | Loss | PCSK9 |
nsv817614 | Chr.1:54580862 - 55735351 on Build GRCh38 | Gain | LOC100507634 ACOT11 DHCR24 TTC22 MIR4422 LEXM PARS2 USP24 MROH7-TTC4 TTC4 MROH7 FAM151A TMEM61 PCSK9 BSND |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |