| General information of RDP00078 | |
|---|---|
| Gene Symbol: | GRK2 |
| RefSeq ID: | NM_001619 |
| Repeat coordinate: | chr11:67266652-67266676 (+) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.376; 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 |
| Heart Decompensation | NM_001619 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
67266651
.
AGCG
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
67266651
rs771088820
AGCGGCGGCG
AGCGGCG,AGCG,A,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG
194990.86
11
67266654
rs547694717
G
A
106284.75
11
67266657
rs182084609
G
A
78232.08
11
67266660
.
G
A
3092.28
11
67266663
.
G
A
287.76
11
67266666
.
G
T,GGCT
2063.54
11
67266674
.
C
G
24221.85
11
67266675
.
G
A
175.21
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
67266651
rs771088820
AGCGGCGGCG
AGCGGCGGCGGCG,A,AGCGGAGGCGGCGGCG,AGCGGCG,AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG
108274.56
11
67266654
rs547694717
G
A
18208.69
11
67266657
rs182084609
G
A
107999.34
11
67266660
.
G
A
3195.09
11
67266666
.
G
GGCT
250.73
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
67266649
.
GGAGCGGCGGCG
GGAGCGGCAGCG
.
11
67266649
.
GGAGCGGCGGCGG
GGAGCGGCGG
.
11
67266651
rs776469485
AGCG
A
.
11
67266651
rs759489796
AGCGGCGGCG
A,AGCGGCG,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG
.
11
67266654
rs547694717
G
A
.
11
67266655
.
G
GC
.
11
67266655
.
GCG
GCA
.
11
67266655
.
G
GC
.
11
67266657
rs182084609
G
A
.
11
67266659
.
C
T
.
11
67266664
.
G
GC
.