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_nameRefSeqScoreNofPmidsNofSnpsSource
Metastatic melanomaNM_0051090.3000UNIPROT
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
.