| General information of RDP00595 | |
|---|---|
| Gene Symbol: | TNRC6A |
| RefSeq ID: | NM_001351850 |
| Repeat coordinate: | chr16:24613439-24613529 (+) |
| Repeat size: | 18 |
| Repeat region: | intron |
| Repeat unit: | TTTTA |
| Repeat conservation: | PhastCons_score: 0.262; 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
24613438
rs869133147
CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT
C,CATTTTATTTTATTTT,CATTTTATTTTATTTTATTTTATTTT,CATTTT,CATTTTATTTTATTTTATTTT,CATTTTATTTT
5030362.43
16
24613439
.
ATTTTATTTTATTTTATTTTATTTTATTTT
A
4132832.36
16
24613443
.
T
C
4128566.18
16
24613446
.
T
C
4121898.52
16
24613447
.
T
C
4119442.84
16
24613448
.
T
C
4117710.69
16
24613449
.
AT
A
4149213.01
16
24613452
.
T
G
4097553.40
16
24613454
.
ATT
A
4042885.40
16
24613455
.
T
C
4019281.85
16
24613456
.
T
C
4020944.34
16
24613457
.
T
A
4014530.90
16
24613458
.
T
A
4014464.29
16
24613459
.
ATTTTATTTTATTTTATTTTATTT
A
3526222.87
16
24613460
.
T
C
3479033.28
16
24613463
.
T
C
3489314.65
16
24613469
.
ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT
A
1257826.38
16
24613484
.
ATTTTATTTTATTTTATTTT
A
8611.53
16
24613488
.
T
C
9515.96
16
24613489
.
A
C
4117.83
16
24613494
.
A
G
3705.69
16
24613498
.
T
A
3314.72
16
24613499
.
A
C
5835.99
16
24613503
.
T
A
10588.19
16
24613504
.
A
C
25005.23
16
24613507
.
T
G
9422.74
16
24613508
rs867387120
TA
AA,T
747.77
16
24613509
.
A
C
33790.42
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
24613438
.
CATTTTATTTTATTTTATTTTATTTTATTTTATTTT
C
.
16
24613438
.
CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT
C
.
16
24613438
.
CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT
C
.
16
24613447
.
T
C
.
16
24613460
.
T
A
.
16
24613461
.
T
A
.
16
24613462
.
T
G
.
16
24613463
.
T
C
.
16
24613480
.
T
A
.
16
24613481
.
T
A
.
16
24613482
.
T
G
.
16
24613483
.
T
C
.
16
24613493
.
T
A
.
16
24613494
.
A
C
.
16
24613497
.
T
A
.
16
24613498
.
T
A
.
16
24613499
.
A
C
.
16
24613501
rs373635133
T
TTAC
.
16
24613508
.
T
A
.
16
24613513
.
T
A
.
16
24613514
.
A
C
.
16
24613517
.
T
A
.
16
24613519
.
A
T
.
16
24613524
rs111779999
AT
A
.