| General information of RDP00104 | |
|---|---|
| Gene Symbol: | PPP2R5C |
| RefSeq ID: | NM_001161725 |
| Repeat coordinate: | chr14:101761863-101761881 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.217; 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 |
| Familial Nonmedullary Thyroid Cancer | NM_001161725 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761861
.
GGGC
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761861
rs373744052
GGGC
G,GGGCGGC
468886.61
14
101761864
rs775322078
C
A
405034.93
14
101761870
.
C
T
593.18
14
101761876
.
C
T
1442.95
14
101761878
.
G
A
89.59
14
101761879
.
C
T
1152.71
14
101761881
.
G
A
279.82
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761861
rs373744052
GGGCGGCGGC
GGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGC,G
630192.55
14
101761867
.
C
A
3607.52
14
101761873
.
C
A
868.77
14
101761874
.
G
A
699.77
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761861
.
GGGC
G
.
14
101761861
rs373744052
GGGC
G
.
14
101761864
rs775322078
C
A,G
.
14
101761864
.
C
CG
.