| General information of RDP00186 | |
|---|---|
| Gene Symbol: | PPARGC1A |
| RefSeq ID: | NM_001330751 |
| Repeat coordinate: | chr4:24472664-24472688 (-) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.522; 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 |
| Ceroid lipofuscinosis, neuronal 1, infantile | NM_001330751 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
24472663
rs542296564
TGCCGCCGCC
TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCC,TGCC,T,TGCCGCCGCCGCCGCCGCCGCCGCC
112172.63
4
24472674
.
C
T
1213.42
4
24472678
.
CGCCGCCGCCGCT
C,CGCCGCCGCCGCTGCCGCCGCCGCT
1904.05
4
24472679
.
G
A
1776.01
4
24472681
.
CGCCGCCGCT
C
2316.72
4
24472684
.
C
CGCCGCT
4405.54
4
24472687
.
CGCT
C
2520.25
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
24472663
rs772168932
TGCC
T
.
4
24472663
.
TGCCGCCGCCGCC
T
.
4
24472666
.
C
T
.
4
24472669
rs570105633
C
T
.
4
24472678
.
C
CG
.
4
24472681
.
C
CG
.
4
24472682
.
G
C
.
4
24472682
.
G
GC
.