Assay Details
Target Gene Details
Entrez Gene ID: | 5511 |
Gene Name: | protein phosphatase 1 regulatory subunit 8 |
Gene Aliases: |
ARD-1, ARD1, NIPP-1, NIPP1, PRO2047 |
Location: |
Chr.1:27830741-27851672 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PPP1R8 | NM_002713.3 | 6 | 1138 | NP_002704.1 |
NM_014110.4 | 7 | 957 | NP_054829.2 | |
NM_138558.2 | 7 | 1239 | NP_612568.1 | |
XM_017001594.1 | 6 | 658 | XP_016857083.1 | |
AF061958.1 | 7 | 885 | AAD31541.1 | |
AF061959.1 | 7 | 1040 | AAD31542.1 | |
AF126488.1 | 7 | 873 | AAD22486.1 | |
AK292077.1 | 7 | 885 | ||
AK297771.1 | 6 | 664 | ||
AK304619.1 | ||||
AK307570.1 | 7 | 933 | ||
AK313814.1 | 6 | 644 | ||
AX775985.1 | 7 | 873 | CAE11692.1 | |
BC001597.1 | 6 | 765 | AAH01597.1 | |
BC013360.2 | 6 | 815 | AAH13360.1 | |
BC093017.1 | 7 | 877 | AAH93017.1 | |
BI459680.1 | ||||
CR450309.1 | 2 | 190 | CAG29305.1 | |
DQ223931.1 | 4 | 418 | ABB04281.1 | |
U14575.1 | 6 | 1125 | AAA64749.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv509069 | Chr.1:27817460 - 27905956 on Build GRCh38 | Insertion | RPA2 STX12 THEMIS2 SCARNA1 PPP1R8 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |