General information of RDP00468
Gene Symbol:GSE1
RefSeq ID:NM_001134473
Repeat coordinate:chr16:85652547-85652565 (+)
Repeat size:6
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.044; 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
Colorectal CarcinomaNM_0011344730.3101UNIPROT
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
85652545
rs142500416
AGGCGGC
AGGCGGCGGC,A,AGGC,AGGCGGCGGCGGC,AGGCGGCGGCGGCGGC,AGGCGGCGGCGGCGGCGGC
10049016.04
16
85652547
.
GC
G
149468.90
16
85652548
.
C
T
150829.09
16
85652549
rs865797745
G
A
10404.04
16
85652551
rs758694875
C
T
10075.49
16
85652552
.
G
A
1105.22
16
85652555
.
G
GGCA,A
1079.12
16
85652557
rs539260257
C
T
516.48
16
85652560
.
CG
C,CGGTG
27231.07
16
85652561
.
G
A
23974.75
16
85652563
.
CGG
C,CGGTGG
24023.57
16
85652565
rs139600457
G
GCTC,GCGGCTC,C
102799.52
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
85652545
.
AGGC
A,AGGCGGC
.
16
85652545
.
AGGC
A,AGGCGGC
.
16
85652545
rs536515690
AGGCGGC
A
.
16
85652551
rs758694875
C
T
.
16
85652557
rs539260257
C
CGGT
.
16
85652562
.
GCGG
C
.
16
85652565
rs139600457
G
T
.
16
85652565
rs541012037
G
GCGGCGGCGGCGCGG,GCGGCGGCGGCGG,GCGGCGG,GCTC
.