| General information of RDP00128 | |
|---|---|
| Gene Symbol: | MAFG |
| RefSeq ID: | NM_002359 |
| Repeat coordinate: | chr17:81927700-81927718 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.154; 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 |
| Intrahepatic Cholestasis | NM_002359 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
81927700
rs571057035
TCCG
T,TCCGCCG,TCCGCCGCCG
29619.08
17
81927702
.
C
T
3055.91
17
81927703
.
G
A
3016.99
17
81927716
.
C
A
537.12
17
81927717
.
C
T
450.42
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
81927700
.
TCCG
T
.
17
81927705
.
C
CG
.
17
81927712
.
G
A
.