| General information of RDP00031 | |
|---|---|
| Gene Symbol: | RREB1 |
| RefSeq ID: | NM_001168344 |
| Repeat coordinate: | chr6:7107675-7107702 (+) |
| Repeat size: | 9 |
| Repeat region: | 5' UTR |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.933; 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 |
| 22q11 partial monosomy syndrome | NM_001168344 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
7107673
.
GCGCCGCCGC
G
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
7107673
rs575640366
GCGCCGCCGCCGCCGC
GCGCCGC,GCGCCGCCGCCGCCGCCGC,GCGCCGCCGCCGCCGCCGCCGC,GCGCCGCCGC,G,GCGC
946235.47
6
7107692
.
CGCCGCCGCCGCG
C
539.47
6
7107694
.
C
T
832.10
6
7107695
.
CGCCGCCGCG
C
692.48
6
7107697
.
C
T
934.14
6
7107701
.
C
T
838.15
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
7107673
rs773130683
GCGC
G
.
6
7107673
rs574566438
GCGCCGCCGC
G
.
6
7107673
.
GCGCCGCCGCCGC
G
.
6
7107673
.
GCGCCGCCGCCGCCGCCGC
G
.
6
7107679
.
C
A
.