Assay 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 | 1609 | NP_001308356.1 |
NM_001321428.1 | 12 | 1020 | NP_001308357.1 | |
NM_001321429.1 | 13 | 1196 | NP_001308358.1 | |
NM_001321430.1 | 13 | 1136 | NP_001308359.1 | |
NM_001321432.1 | 12 | 960 | NP_001308361.1 | |
NM_001321433.1 | 13 | 1133 | NP_001308362.1 | |
NM_001321435.1 | 13 | 1207 | NP_001308364.1 | |
NM_001321436.1 | 13 | 1211 | NP_001308365.1 | |
NM_001321438.1 | 11 | 970 | NP_001308367.1 | |
NM_022152.5 | 12 | 1035 | NP_071435.2 | |
NR_135643.1 | 11 | 793 | ||
XM_011511627.1 | 12 | 1388 | XP_011509929.1 | |
AB257295.1 | 12 | 1096 | ||
AF193045.1 | 12 | 949 | AAG22473.1 | |
AK027755.1 | 10 | 683 | BAB55346.1 | |
AK075465.1 | 8 | 510 | BAC11636.1 | |
AK090618.1 | 13 | 1607 | ||
AK093911.1 | 10 | 1547 | ||
AK130380.1 | 12 | 993 | ||
AK130713.1 | 12 | 971 | ||
AK298123.1 | 13 | 807 | ||
AK298500.1 | 11 | 729 | ||
AK300597.1 | 11 | 897 | ||
BC007980.2 | 12 | 949 | AAH07980.1 | |
BC013428.1 | 12 | 1013 | AAH13428.1 | |
BC026348.1 | 12 | 970 | AAH26348.1 | |
BC026693.2 | 12 | 981 | AAH26693.1 | |
CA488388.1 | 2 | 148 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic non-DGV Variation |