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- Gene Symbol
- PNKD
- Assay Reference Genome
Location
Chr.2:218274919 on build GRCh38- Cytoband
- 2q35
Genomic Map
Back To TopAssay Details
Target Gene Details
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 |
Target Gene Details
Entrez Gene ID: | 64114 |
Gene Name: | transmembrane BAX inhibitor motif containing 1 |
Gene Aliases: |
LFG3, MST100, MSTP100, PP1201, RECS1 |
Location: |
Chr.2:218274192-218292577 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TMBIM1 | NM_001321427.1 | 13 | 2218 | NP_001308356.1 |
| NM_001321428.1 | 12 | 1629 | NP_001308357.1 | |
| NM_001321429.1 | 13 | 1805 | NP_001308358.1 | |
| NM_001321430.1 | 13 | 1745 | NP_001308359.1 | |
| NM_001321432.1 | 12 | 1569 | NP_001308361.1 | |
| NM_001321433.1 | 13 | 1742 | NP_001308362.1 | |
| NM_001321435.1 | 13 | 1816 | NP_001308364.1 | |
| NM_001321436.1 | 13 | 1820 | NP_001308365.1 | |
| NM_001321438.1 | 11 | 1579 | NP_001308367.1 | |
| NM_022152.5 | 12 | 1644 | NP_071435.2 | |
| NR_135643.1 | 11 | 1402 | ||
| XM_011511627.1 | 12 | 1997 | XP_011509929.1 | |
| AB257295.1 | 12 | 1705 | ||
| AF193045.1 | 12 | 1558 | AAG22473.1 | |
| AK027755.1 | 10 | 1292 | BAB55346.1 | |
| AK075465.1 | 8 | 1119 | BAC11636.1 | |
| AK090618.1 | 13 | 2216 | ||
| AK093911.1 | 10 | 2156 | ||
| AK130380.1 | 12 | 1602 | ||
| AK130713.1 | 12 | 1580 | ||
| BC007980.2 | 12 | 1558 | AAH07980.1 | |
| BC013428.1 | 12 | 1622 | AAH13428.1 | |
| BC026348.1 | 12 | 1579 | AAH26348.1 | |
| BC026693.2 | 12 | 1590 | AAH26693.1 | |
| CA488388.1 | 2 | 757 |
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
Intronic
Non-exonic
non-DGV Variation
|
Gene Ontology Categories:
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