| General information of RDP00223 | |
|---|---|
| Gene Symbol: | NRF1 |
| RefSeq ID: | NM_001293163 |
| Repeat coordinate: | chr7:129611700-129611718 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 1.000; 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 |
| Bowen's Disease | NM_001293163 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
129611700
.
TCGG
T,TCGGCGG,TCGGCGGCGG,TCGGCGGCGGCGG
6148.90
7
129611702
.
G
C
2553.45
7
129611703
rs573323990
G
T
2553.37
7
129611707
.
C
T
61.52
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
129611703
rs573323990
G
A
.
7
129611713
.
C
CG
.
7
129611716
.
C
CG
.
7
129611716
.
C
CG
.
7
129611717
.
GG
GGG
.
7
129611718
.
G
GC
.