Assay Details
Target Gene Details
Entrez Gene ID: | 5352 |
Gene Name: | procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
Gene Aliases: |
BRKS2, LH2, TLH |
Location: |
Chr.3:146069436-146161495 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLOD2 | NM_000935.2 | 12 | 1802 | NP_000926.2 |
NM_182943.2 | 12 | 1802 | NP_891988.1 | |
XM_005247535.3 | 13 | 1359 | XP_005247592.1 | |
XM_017006625.1 | 13 | 1313 | XP_016862114.1 | |
AB209879.1 | 12 | 1474 | BAD93116.1 | |
AK125700.1 | 2 | 785 | ||
AK295084.1 | 12 | 1393 | ||
AL832238.1 | ||||
BC037169.1 | 12 | 1473 | AAH37169.1 | |
BX537521.1 | 2 | 1631 | ||
U84573.1 | 12 | 1296 | AAB58363.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv525829 | Chr.3:145896530 - 146145992 on Build GRCh38 | Loss | PLOD2 |
nsv4046 | Chr.3:145975462 - 146162402 on Build GRCh38 | Deletion | PLOD2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |