General information of RDP00470
Gene Symbol:KIAA0100
RefSeq ID:NM_001321560
Repeat coordinate:chr17:28644947-28644968 (-)
Repeat size:7
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.002; 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 ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
28644947
.
CCCGCCG
C,CCCG
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
28644946
rs765227652
TCCCGCCGCC
T
4965.31
17
28644947
rs765822960
CCCGCCGCCG
CCCGCCG,CCCGCCGCCGCCGCCG,CCCG,CCCGCCGCCGCCG,C
1738440.48
17
28644949
.
C
CT
1293323.76
17
28644950
.
G
C
1301407.22
17
28644955
.
C
T
37591.28
17
28644959
.
G
A
4518.29
17
28644960
.
C
A
455.82
17
28644961
rs753509546
C
A
1377.45
17
28644963
rs754211671
C
CCGCCGG
1834.53
17
28644964
.
CGCCGGCGCG
C
542.56
17
28644966
.
C
G
1864.11
17
28644967
rs754811464
CGGCGCG
TGGCGCG,C,AGGCGCG
3408.14
17
28644968
rs757689107
G
A,GCCGCCC
2859.79
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
28644946
rs765227652
TCCCGCCGCC
T
1981.47
17
28644947
rs765822960
CCCGCCGCCG
CCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCG,C
59911.94
17
28644963
rs754211671
C
CCGCCGG
729.47
17
28644964
.
C
T
54.47
17
28644967
rs754811464
C
T
3791.56
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
28644946
rs765227652
TCCCGCCGCC
T
.
17
28644947
rs773065712
CCCG
C
.
17
28644947
rs754626443
CCCGCCGCCG
C
.
17
28644947
rs762460974
CCCGCCGCCGCCG
CCCG,CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCGCCGCCG,C
.
17
28644950
.
G
C
.
17
28644957
rs12947980
C
T
.
17
28644961
rs753509546
C
A
.
17
28644962
.
G
C
.
17
28644963
rs754211671
C
CCGCCGG
.
17
28644965
rs112794527
G
C
.
17
28644967
rs754811464
C
T
.
17
28644968
rs757689107
G
GCCGCCC
.