| General information of RDP00633 | |
|---|---|
| Gene Symbol: | SRP68 |
| RefSeq ID: | NR_048541 |
| Repeat coordinate: | chr17:76072447-76072465 (-) |
| Repeat size: | 6 |
| Repeat region: | exon |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.026; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Arsenic Induced Polyneuropathy | NR_048541 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
76072432
.
ACCGCCGCCGCCACTGCCGCCGCCG
A,ACCGCCG
.
17
76072446
.
TGCC
T
.
17
76072461
.
C
CACT
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
76072414
.
ACCGCCGCCGCCACTGCCACCGCCGCCGCCACTGCCGCCGCCG
A,TCCGCCGCCGCCACTGCCACCGCCGCCGCCACTGCCGCCGCCG,ACCGCCGCCGCCACTGCCGCCGCCGCCACTGCCACCGCCGCCGCCACTGCCGCCGCCG,ACCGCCGCCGCCGCCACTGCCACCGCCGCCGCCACTGCCGCCGCCG
447611.77
17
76072428
rs377012082
TGCCACCGCCGCCGCCACTGCCGCC
TGCC,GGCCACCGCCGCCGCCACTGCCGCC,T,TGCCACTGCCGCC
417740.63
17
76072432
rs745459037
ACCGCCGCCGCCACTGCCGCCGCCG
GCCGCCGCCGCCACTGCCGCCGCCG,CCCGCCGCCGCCACTGCCGCCGCCG,A,ACCGCCG,ACCG
1422249.52
17
76072444
rs751740834
ACTGCCGCCGCCG
GCTGCCGCCGCCG,A
117063.88
17
76072446
rs536477130
TGCCGCCGCC
TGCCGCC,TGCCGCCGCCGCC,TGCCGCCGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC
750032.46
17
76072449
rs776861075
C
T
655989.26
17
76072450
rs542137334
G
A
136375.69
17
76072452
rs765398337
C
T
92950.98
17
76072453
.
G
A
89201.30
17
76072454
.
C
T
52234
17
76072455
rs757052173
C
T,CACT
53526.66
17
76072456
.
G
C,T
34154.18
17
76072458
rs200964219
C
CACT
2410.67
17
76072459
rs750447351
G
A
6561.99
17
76072461
rs763571966
C
CACT,T
6151.22
17
76072462
rs200249656
G
A
1585.61
17
76072463
.
C
A
1521.21
17
76072464
rs751979771
C
T
435.57
17
76072465
rs781014954
G
A,T
1289.69
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
76072428
rs377012082
TGCCACCGCCGCCGCCACTGCC
TGCCGCCGCCGCCGCCACCGCCGCCGCCACTGCC,T,GGCCACCGCCGCCGCCACTGCC
73956.96
17
76072432
rs745459037
ACCGCCGCCGCCACTGCCG
GCCGCCGCCGCCACTGCCG,ACCGCCGCCGCCACTGCCGCCGCCGCCGCCACTGCCG,ACTGCCGCCGCCGCCGCCACTGCCG,ACCGCCGCCGCCACTGCCGCCGCCGCCACTGCCG,A,ACTGCCGCCGCCGCCGCCACTGCCGCCGCCGCCGCCACTGCCG
322801.67
17
76072446
rs536477130
TGCC
T,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCC,TGCCGCC,TGCCGCCGCC
105876.44
17
76072449
rs776861075
C
T,CGCCGCCGCCGCCACT
10566.90
17
76072450
rs542137334
G
A
9237.43
17
76072458
rs200964219
C
CGCCACT
2506.33
17
76072465
rs781014954
G
T
219.59
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
76072428
rs777654342
TGCCACCGCCGCCGCCACTGCC
T
.
17
76072428
rs770666092
TGCCACCGCCGCCGCCACTGCCGCC
T
.
17
76072432
rs771498861
ACCGCCGCCGCCACTGCCG
A
.
17
76072432
rs760260174
ACCGCCGCCGCCACTGCCGCCG
A
.
17
76072432
rs775128165
ACCGCCGCCGCCACTGCCGCCGCCG
A
.
17
76072443
.
CACTGCCGCCGCCGCCGCC
C
.
17
76072444
.
ACTGCCGCCGCCG
A,GCTGCCGCCGCCG
.
17
76072444
rs751740834
ACTGCCGCCGCCG
A
.
17
76072446
.
TGCC
T
.
17
76072446
rs759859106
TGCC
T
.
17
76072446
.
TGCCGCC
T
.
17
76072446
rs753735272
TGCCGCCGCC
T
.
17
76072449
rs776861075
C
G,T
.
17
76072449
.
C
CG
.
17
76072450
rs542137334
G
A
.
17
76072450
.
G
GC
.
17
76072452
rs765398337
C
T
.
17
76072455
rs757052173
C
CACT
.
17
76072456
.
G
A,C
.
17
76072458
rs200964219
C
T
.
17
76072459
rs750447351
G
A
.
17
76072461
rs763571966
C
T
.
17
76072461
rs778713042
C
CACT
.
17
76072462
rs200249656
G
A
.
17
76072464
rs751979771
C
A,T
.
17
76072465
rs781014954
G
A
.
17
76072465
.
G
GC
.