| General information of RDP00454 | |
|---|---|
| Gene Symbol: | PPP2R5C |
| RefSeq ID: | NM_001352914 |
| Repeat coordinate: | chr14:101761783-101761801 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.850; 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_001352914 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761781
rs547036580
GGGCGGCGGC
GGGCGGCGGCGGCGGC,GGGCGGCGGCGGC,GGGCGGC,GGGCGGCGGCGGCGGCGGC,G
414806.56
14
101761787
.
C
CGGA
1297.52
14
101761790
.
C
T
1212.30
14
101761792
.
G
A
544.36
14
101761797
.
G
A
539.73
14
101761798
.
GCGGCCGCGGGGGCGCGA
G
9963.87
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761798
.
GCGGCCGCGGGGGCGCGA
G
.