Assay Details
Target Gene Details
Entrez Gene ID: | 7804 |
Gene Name: | LDL receptor related protein 8 |
Gene Aliases: |
APOER2, HSZ75190, LRP-8, MCI1 |
Location: |
Chr.1:53242364-53328149 on Build GRCh38 |
Assay Gene Location: | Within Exon 22 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LRP8 | NM_001018054.2 | 18 | 7014 | NP_001018064.1 |
NM_004631.4 | 19 | 7191 | NP_004622.2 | |
NM_017522.4 | 16 | 6402 | NP_059992.3 | |
NM_033300.3 | 17 | 6681 | NP_150643.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1011750 | Chr.1:53226981 - 53261502 on Build GRCh38 | Gain | LOC100507564 LRP8 MAGOH |
nsv829871 | Chr.1:53200871 - 53383048 on Build GRCh38 | Loss | LOC105378732 LOC100507564 CPT2 LRP8 MAGOH C1orf123 |
esv2422213 | Chr.1:53179891 - 53258767 on Build GRCh38 | Duplication | LOC100507564 CPT2 LRP8 MAGOH C1orf123 |
nsv1001535 | Chr.1:52620368 - 53346539 on Build GRCh38 | Gain | MIR5095 ZYG11A ZYG11B SCP2 LOC105378732 CPT2 MIR1273F C1orf123 SLC1A7 PODN LOC100507564 FAM159A ECHDC2 LRP8 MAGOH MIR1273G COA7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |