General information of RDP00418 | |
---|---|
Gene Symbol: | PPP2R5C |
RefSeq ID: | NM_001352914 |
Repeat coordinate: | chr14:101761688-101761715 (+) |
Repeat size: | 9 |
Repeat region: | intron |
Repeat unit: | CCG |
Repeat conservation: | PhastCons_score: 0.027; 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
101761677
.
ACGCCGCCGCTGC
ACGCCGCCGCCGCTGC,ACGCCGCCGCTGCCGCCGCCGCTGC,ACGCCGCCGCTGCCGCCGCCGCCGCTGC,ACGCCGCCGCTGCCGCCGCCGCCGCCGCTGC,A
2609.22
14
101761687
.
TGCCGCCGCCGCC
TGCCGCCGCC,TGCCGCC,TGCCGCCGCCGCCGCCGCC,T,TGCCGCCGCCGCCGCC,CGCCGCCGCCGCC
112172.32
14
101761689
.
C
T
62447.74
14
101761690
.
C
T
60648.39
14
101761699
.
C
T
51639.78
14
101761708
.
C
T
398.33
14
101761713
.
C
CCGT
1060.64
Mapping repeat track to Kaviar: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761687
.
TGCCGCCGCCGCC
T
.
14
101761699
.
C
T
.