Product Details

Assay Reference Genome
Location

Chr.1:11965498 on build GRCh38
Cytoband
1p36.22
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
5351
Gene Symbol
PLOD1
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 Intron 14 - Exon 15
Gene Symbol Transcript Accession Exon Location Assay 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 Chr1:11963044 - 11966243 on Build GRCh38 Deletion PLOD1
nsv545427 Chr1:11960355 - 11966298 on Build GRCh38 Loss PLOD1

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