| General information of RDP00173 | |
|---|---|
| Gene Symbol: | ADARB1 |
| RefSeq ID: | NM_001112 |
| Repeat coordinate: | chr21:45074600-45074621 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.005; 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 |
| Sclerocystic Ovaries | NM_001112 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
45074598
.
TGGC
T,TGGCGGCGGC,TGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGC
1198237.48
21
45074602
.
GGCGGCGGCGGCGGCGGCGGCA
G,AGCGGCGGCGGCGGCGGCGGCA
19514.27
21
45074604
rs866779547
C
T
38768.10
21
45074605
.
GGCGGCGGCGGCGGCGGCA
TGCGGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCA,G,CGCGGCGGCGGCGGCGGCA
18454.86
21
45074610
.
C
T
9849.76
21
45074611
.
GGCGGCGGCGGCA
GGCGGCGGCGGCAGCGGCGGCGGCA,G
33859.39
21
45074614
rs574162552
GGCGGCGGCA
G,GGCGGCGGCAGCGGCGGCA,AGCGGCGGCA
14197.93
21
45074617
.
GGCGGCA
G,GGCGGCGGCGGCGCGGCA
6776.22
21
45074620
.
GGCA
G,GGCAGCA,GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCA
7206.31
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
45074598
.
TGGC
T
.
21
45074598
.
TGGCGGC
T
.
21
45074598
.
TGGCGGCGGC
T
.
21
45074604
.
C
T
.
21
45074611
.
G
GGCGGCGGCGGCA
.
21
45074614
rs574162552
G
GGCGGCGGA
.