| General information of RDP00161 | |
|---|---|
| Gene Symbol: | PPP1R21 |
| RefSeq ID: | NM_001135629 |
| Repeat coordinate: | chr2:48440813-48440834 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.404; 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 |
| Abnormality of the respiratory system | NM_001135629 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
48440812
rs71399058
CGCGGCGGCG
CGCGGCGGCGGCG,CGCGGCG,CGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCG,C,CGCGGCGGCGGCGGCGGCGGCG
5300588.69
2
48440817
.
C
CGGCGGG
51491.53
2
48440818
rs563800471
G
C
52211.98
2
48440820
.
C
T,CGGT
23279.44
2
48440823
.
CGGCGGCGGCGGCTGCGGT
C,TGGCGGCGGCGGCTGCGGT
3531.56
2
48440829
.
C
CGGCGGCTGCGGT,CGGCTGCGGT
151306.35
2
48440830
.
G
A
3010.12
2
48440832
.
CGGCTGCGGT
CGGCGGTGGCTGCGGT,CGGCTGCGGTGGCTGCGGT,C
3936.19
2
48440833
rs764158711
G
GGCT,GGCGGCC
96769.41
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
48440812
.
CGCG
C
.
2
48440812
.
CGCG
C,CGCGGCG,CGCGGCGGCG
.
2
48440815
rs145810382
G
GGGC
.
2
48440818
rs563800471
G
C
.
2
48440819
.
G
GC
.
2
48440824
rs575252479
G
T
.
2
48440826
.
C
CG
.
2
48440829
.
C
T
.
2
48440829
.
C
CGGCGGCTGCGGT
.
2
48440831
rs545828021
G
C
.
2
48440833
.
G
T
.
2
48440833
rs763574347
G
GGCT
.
2
48440833
rs764158711
GGCT
G
.
2
48440834
.
G
C
.