| General information of RDP00184 | |
|---|---|
| Gene Symbol: | RAB5A |
| RefSeq ID: | NM_001292048 |
| Repeat coordinate: | chr3:19947266-19947287 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.182; 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 |
| Myocardial Ischemia | NM_001292048 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
19947266
rs67898127
CCGGCGGCGG
CCGGCGGCGGCGGCGGCGGCGG,CCGGCGGCGGCGG,CCGGCGG,CCGGCGGCGGCGGCGGCGG,CCGGCGGCGGCGGCGG,C
12465958.74
3
19947267
.
CG
C
3573504.59
3
19947268
.
G
T
3508960.30
3
19947269
.
G
C
3505824.46
3
19947270
.
C
CGGA
103160.71
3
19947271
.
G
A
93929.48
3
19947274
.
G
GGCA
69931.69
3
19947277
.
GGCGGCGGCGGA
G
1363.77
3
19947282
.
C
CGGT
762.64
3
19947285
rs532701590
CGGA
AGGA,CGGAGGA,C,CGGCGGCGGAGGA,CGGCGGAGGA,CGGCGGCGGCGGAGGA
67974.09
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
19947263
.
GCGCCGG
GCGC
.
3
19947266
.
CCGG
C,CCGGCGGCGG,CCGGCGGCGGCGG
.
3
19947266
rs67898127
CCGG
CCGGCGG,CCGGCGGCGG,CCGGCGGCGGCGG,CCGGCGGCGGCGGCGG,C
.
3
19947266
.
CCGGCGGCGG
C
.
3
19947274
.
G
T
.
3
19947285
rs532701590
C
A
.