General information of RDP00155
Gene Symbol:CCDC93
RefSeq ID:NM_019044
Repeat coordinate:chr2:118014107-118014131 (-)
Repeat size:8
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.003; 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_0190440.3000UNIPROT
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
118014106
rs750526258
TGCCGCCGCCGCC
TGCCGCCGCC,TGCC,TGCCGCC,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCC,T
53975381.75
2
118014108
rs766578346
C
T
48005975.81
2
118014109
rs776634658
C
T,CTCT
47984647.48
2
118014110
rs527450950
G
A,C,T
25672723.53
2
118014112
rs773531073
C
T,A
25351072.84
2
118014113
.
G
A
12698333.28
2
118014114
.
CCGCCGCCGCCGCCGCCGCCTGCCCGAAG
TCGCCGCCGCCGCCGCCGCCTGCCCGAAG,C
12657805.20
2
118014115
rs752526270
CG
C
12656399.66
2
118014116
rs766885983
G
A
1170866.36
2
118014117
rs756110010
CCGCCGCCG
C
1146661.55
2
118014118
.
CG
C
1147858.89
2
118014119
rs751963870
G
A
54542.96
2
118014120
.
CCG
C
52760.67
2
118014121
rs760015689
C
A
55789.56
2
118014122
rs768007227
G
A
43763.43
2
118014124
.
C
T
6231.01
2
118014127
.
C
T
2849.67
2
118014130
.
C
A
2339.80
2
118014131
.
G
A
3981.49
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
118014106
rs750526258
TGCCGCCGCCGCC
TGCCGCCGCC,TGCC,TGCCGCC,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCC,T
9010593.56
2
118014114
.
CCGCCGCCGCCGCCGCCGCCTGCCCGAAG
C
1840107.52
2
118014118
.
CG
C
28369.10
2
118014120
.
CCG
C
8237.63
2
118014121
rs760015689
C
G,A
8981.57
2
118014122
rs768007227
G
A
13563.60
2
118014124
.
C
T
554.45
2
118014131
.
G
A
2207.09
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
118014106
.
TGCC
T
.
2
118014106
.
TGCCGCC
T
.
2
118014106
.
TGCCGCCGCC
T
.
2
118014106
rs796837507
TGCC
T,TGCCGCC,TGCCGCCGCC
.
2
118014106
rs749703808
TGCCGCC
T,TGCC,TGCCGCCGCC
.
2
118014106
rs761915740
TGCCGCCGCC
T,TGCC,TGCCGCC,TGCCGCCGCCGCC,TGCCGCCGCCGCCGCC
.
2
118014106
rs765608938
TGCCGCCGCCGCC
T,TGCC,TGCCGCC,TGCCGCCGCC,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCC
.
2
118014108
rs766578346
CCGCCGCCG
C
.
2
118014109
rs776634658
C
T
.
2
118014110
rs527450950
G
A,T
.
2
118014112
rs773531073
C
A,T
.
2
118014116
rs766885983
G
A
.
2
118014117
rs756110010
CCGCCGCCG
C
.
2
118014119
rs751963870
G
C
.
2
118014119
.
GCC
GCCG
.
2
118014121
rs760015689
C
A
.
2
118014122
rs768007227
G
A
.
2
118014124
.
C
CG
.
2
118014125
rs151110331
G
T
.
2
118014130
.
C
CG
.