Assay Details
Target Gene Details
Entrez Gene ID: | 5351 |
Gene Name: | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
Gene Aliases: |
EDS6, LH, LH1, LLH, PLOD |
Location: |
Chr.1:11934667-11975542 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 13 - Intron 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLOD1 | NM_000302.3 | NP_000293.2 | ||
NM_001316320.1 | NP_001303249.1 | |||
AK294688.1 | ||||
AK295254.1 | ||||
AK299150.1 | ||||
AK312243.1 | ||||
AK316285.1 | ||||
BC016657.2 | AAH16657.1 | |||
M98252.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv955252 | Chr.1:11963044 - 11966243 on Build GRCh38 | Deletion | PLOD1 |
nsv545427 | Chr.1:11960355 - 11966298 on Build GRCh38 | Loss | PLOD1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |