Assay Details
Target Gene Details
Entrez Gene ID: | 5147 |
Gene Name: | phosphodiesterase 6D |
Gene Aliases: |
JBTS22, PDED |
Location: |
Chr.2:231732425-231781327 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDE6D | NM_001291018.1 | 4 | 902 | NP_001277947.1 |
NM_002601.3 | 5 | 1008 | NP_002592.1 | |
XM_011511342.1 | 6 | 1489 | XP_011509644.1 | |
AF022912.1 | 5 | 945 | AAB87872.1 | |
BC007831.2 | 5 | 944 | AAH07831.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759117 | Chr.2:231672114 - 232141148 on Build GRCh38 | Gain+Loss | PTMA COPS7B PDE6D MIR1244-1 DIS3L2 MIR1471 NPPC |
nsv834568 | Chr.2:231625367 - 231780141 on Build GRCh38 | Loss | PTMA PDE6D MIR1244-1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |