| General information of RDP00466 | |
|---|---|
| Gene Symbol: | TNRC6A |
| RefSeq ID: | NM_001351850 |
| Repeat coordinate: | chr16:24729684-24729717 (+) |
| Repeat size: | 11 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.723; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Epilepsy, familial adult myoclonic, 6, 618074 (3) | 610739 | 16p12.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Epilepsy, Myoclonic, Infantile | NM_001351850 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
24729666
.
CCTGCGGCGGCGGCGGTGTCGGCGG
CCGG,C
1885.40
16
24729668
.
TGCGGCGGCGGCGGTGTCGGCGGCGGCG
TGCGGCGGCGGCGGCGGTGTCGGCGGCGGCG,TGCGGCGGCGGCGGTGTCGGCGGCGGCGGCGGTGTCGGCGGCGGCG,TGCGGCGGCG,TGCG,T,TTCGGCGGCGGCG
102002.94
16
24729682
.
TGTC
T,CGTC,TGTCGGCGGCGGCGGCGGCGGCGGCGTC,TGTCGTC
63997.93
16
24729687
rs577598452
G
GTGT,GCGGTGT,GCGGCGGCGGCGGTGT,GTGTCGT,GTGTCGGTGT
4938669.20
16
24729688
rs868427747
C
T,CGGCGGCGGCGGT
502628.86
16
24729689
.
G
GGCGGCGGCGGTGTCT
420518.94
16
24729690
rs867235931
G
T
432439.13
16
24729691
.
C
T
344873.91
16
24729692
.
GGCGGCGGCGGCGGCGGCGGCGGCGGCA
G
338222.44
16
24729693
.
G
T
349066.63
16
24729694
rs867736385
C
T
156868.08
16
24729695
.
G
GGCGGCGGCGGCGGCGGCGGCGGCA
155031.18
16
24729696
rs868208825
G
T
153882.22
16
24729697
.
C
T,G
82955.98
16
24729698
.
G
A
79453.31
16
24729699
.
G
T
82261.83
16
24729700
.
C
T
23492.74
16
24729702
.
G
T
23547.86
16
24729703
.
C
T
10193.95
16
24729705
.
G
T,GTGT
10630.55
16
24729706
.
C
A
6537.85
16
24729709
.
C
T
2479.90
16
24729710
.
G
GGCGGCGGCGGCA
2086.15
16
24729711
.
G
T
2477.84
16
24729713
.
G
GGCGGCA,GGCA,GGCGGCGGCGGCA,GGCGGCAGCGGCGGCA,GGCGGCGGCGGCGGCA
11294.58
16
24729716
.
GGCA
AGCA,GGCAGCA,G
4224.86
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
24729684
rs57831728
TCGG
TCGGCGG,TCGGTGT,TCGGTGTCGGCGGCGG,TCGGTGTCGGCGGCGGCGG,T
.
16
24729684
.
TCGGCGG
T
.
16
24729684
.
TCGGCGGCGG
TCGGCGG,TCGGTGTCGG,T
.
16
24729684
.
TCGGCGGCGGCGG
TCGGCGGCGG,TCGGTGTCGGCGG,TCGGTGTCGGCGGCGG,T
.
16
24729684
.
TCGGCGGCGGCGGCGG
T
.
16
24729685
.
CGGCGGCGGCGGCGGC
CGGCGGC
.
16
24729685
.
C
CGGT
.
16
24729687
rs577598452
G
GCGGCGGCGGCGGTGT,GTGT
.
16
24729688
.
C
T
.
16
24729688
.
CGG
TGT
.
16
24729688
.
CGGCGG
TGTCGG
.
16
24729690
.
G
T
.
16
24729691
.
C
T
.
16
24729698
.
G
T
.
16
24729707
rs528604032
G
A
.
16
24729708
.
G
GC
.
16
24729713
.
G
A
.
16
24729716
.
G
A
.
16
24729717
.
G
T
.