General information of RDP00185 | |
---|---|
Gene Symbol: | OXSR1 |
RefSeq ID: | NM_005109 |
Repeat coordinate: | chr3:38165775-38165793 (+) |
Repeat size: | 6 |
Repeat region: | 5' UTR |
Repeat unit: | CGG |
Repeat conservation: | PhastCons_score: 0.818; 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 |
Metastatic melanoma | NM_005109 | 0.30 | 0 | 0 | UNIPROT |
Mapping repeat track to gnomAD: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
38165774
.
CGCGGCGGCGGCGGCG
CGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCG,C,CGCGGCGGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCGGCGGCG
15280.09
3
38165777
.
G
A
5471.18
3
38165782
.
C
T
1217.74
3
38165788
.
C
G
1344.15
3
38165791
.
C
T
327.41
Mapping repeat track to Kaviar: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
38165774
.
CGC
GGG
.
3
38165774
.
CGCG
C
.
3
38165774
.
CGCG
C
.
3
38165776
rs34526897
C
T
.
3
38165785
.
C
G
.
3
38165791
.
C
CG
.
3
38165793
.
G
GC
.