Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Entrez Gene ID: | 25953 |
Gene Name: | paroxysmal nonkinesigenic dyskinesia |
Gene Aliases: |
BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2 |
Location: |
Chr.2:218270392-218346793 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNKD | NM_015488.4 | NP_056303.3 | ||
NM_022572.4 | 1 | 127 | NP_072094.1 | |
XM_017003771.1 | XP_016859260.1 | |||
XM_017003772.1 | 1 | 152 | XP_016859261.1 | |
AB033010.1 | BAA86498.1 | |||
AK289867.1 | ||||
AY358753.1 | 1 | 47 | AAQ89113.1 | |
BC002937.2 | AAH02937.1 | |||
BC036457.2 | AAH36457.1 | |||
BI764334.1 | 1 | 111 | ||
BU553179.1 | 1 | 159 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv519829 | Chr.2:218286495 - 218403058 on Build GRCh38 | Loss | MIR26B PNKD TMBIM1 SLC11A1 MIR6810 CATIP-AS1 CTDSP1 CATIP-AS2 CATIP |
esv3594336 | Chr.2:218316567 - 218347668 on Build GRCh38 | Gain | PNKD MIR6810 CATIP-AS2 |
Set Membership: |
Intragenic Exonic DGV Variation |