| General information of RDP00349 | |
|---|---|
| Gene Symbol: | MAPK1 |
| RefSeq ID: | NM_002745 |
| Repeat coordinate: | chr22:21867418-21867436 (-) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.985; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAA |
| 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 |
| Polyarthritis, Juvenile, Rheumatoid Factor Positive | NM_002745 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
21867418
rs770506771
CCCG
C,CCCGCCG,CCCGCCGCCG
178687.10
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
21867418
rs770506771
CCCGCCGCCGCCGCCGCCGCCATGTTGGCTGCCGGG
CCCGCCGCCGCCGCCGCCATGTTGGCTGCCGGG,CCCGCCGCCGCCGCCGCCGCCGCCATGTTGGCTGCCGGG,CCCGCCGCCGCCGCCGCCGCCGCCGCCATGTTGGCTGCCGGG,CCCGCCGCCGCCGCCATGTTGGCTGCCGGG,C
67444.47
22
21867423
.
C
A
1227.27
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
21867418
rs751880548
CCCG
C
.
22
21867429
.
C
CG
.
22
21867432
.
C
CG
.
22
21867435
.
C
CG
.