Assay Details
Target Gene Details
Entrez Gene ID: | 5118 |
Gene Name: | procollagen C-endopeptidase enhancer |
Gene Aliases: |
PCPE, PCPE-1, PCPE1 |
Location: |
Chr.7:100602259-100608175 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 8 - Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCOLCE | NM_002593.3 | NP_002584.2 | ||
AB008549.1 | BAA23281.1 | |||
AK313748.1 | ||||
BC000574.2 | AAH00574.1 | |||
BC033205.1 | AAH33205.1 | |||
L33799.1 | AAA61949.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2734888 | Chr.7:99975623 - 101290285 on Build GRCh38 | Deletion |
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nsv951386 | Chr.7:100566478 - 100682977 on Build GRCh38 | Deletion |
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nsv831072 | Chr.7:100564880 - 100765212 on Build GRCh38 | Loss |
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nsv5868 | Chr.7:100572375 - 100617023 on Build GRCh38 | Deletion |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Additional Information:
For this assay, SNP(s) [rs114747798] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
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