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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDE6D | NM_001291018.1 | NP_001277947.1 | ||
NM_002601.3 | NP_002592.1 | |||
XM_011511342.1 | XP_011509644.1 | |||
AF022912.1 | AAB87872.1 | |||
BC007831.2 | AAH07831.1 | |||
BI754373.1 | ||||
BT007278.1 | AAP35942.1 | |||
CR456980.1 | CAG33261.1 |
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 MIR1244-1 MIR1471 DIS3L2 PDE6D NPPC COPS7B |
nsv834568 | Chr.2:231625367 - 231780141 on Build GRCh38 | Loss | PTMA MIR1244-1 PDE6D |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |