Assay Details
Target Gene Details
Entrez Gene ID: | 23037 |
Gene Name: | PDZ domain containing 2 |
Gene Aliases: |
AIPC, PAPIN, PDZK3, PIN1 |
Location: |
Chr.5:31639388-32110932 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDZD2 | NM_178140.3 | NP_835260.2 | ||
XM_005248269.4 | XP_005248326.1 | |||
AB002298.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv597764 | Chr.5:31629019 - 31649431 on Build GRCh38 | Loss | PDZD2 |
esv34132 | Chr.5:31377016 - 31873045 on Build GRCh38 | Loss | DROSHA C5orf22 PDZD2 |
esv3894169 | Chr.5:31629905 - 31723448 on Build GRCh38 | Gain | PDZD2 |
esv3604580 | Chr.5:31525629 - 32360060 on Build GRCh38 | Gain | GOLPH3 ZFR DROSHA C5orf22 MTMR12 PDZD2 MIR4279 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |