| General information of RDP00226 | |
|---|---|
| Gene Symbol: | SLCO5A1 |
| RefSeq ID: | NM_001146008 |
| Repeat coordinate: | chr8:69832994-69833018 (-) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.146; 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 |
| Mesomelia-synostoses syndrome | NM_001146008 | 0.31 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
69832994
.
TCCGCCGCCG
TCCGCCG,TCCGCCGCCGCCG,TCCGCCGCCGCCGCCG,T,TCCGCCGCCGCCGCCGCCG
19443.39
8
69833009
.
G
A
755.47
8
69833013
.
C
CCGA
298.47
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
69832997
.
G
T
.
8
69833015
.
G
C
.
8
69833017
rs111791604
C
T
.