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 Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNKD | NM_015488.4 | NP_056303.3 | ||
XM_017003771.1 | XP_016859260.1 | |||
AB033010.1 | BAA86498.1 | |||
AK289867.1 | ||||
BC036457.2 | AAH36457.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv519829 | Chr.2:218286495 - 218403058 on Build GRCh38 | Loss | CTDSP1 SLC11A1 CATIP CATIP-AS2 CATIP-AS1 PNKD MIR26B MIR6810 TMBIM1 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |