General information of RDP00669
Gene Symbol:EMX2OS
RefSeq ID:NR_002791
Repeat coordinate:chr10:117543427-117543445 (-)
Repeat size:6
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.956; 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 ClinVar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
117543426
193270
GGCCGCC
G
.
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
117543426
.
GGCCGCC
G,GGCC
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
117543426
rs766989996
GGCCGCC
G,GGCC,GGCCGCCGCC,GGCCGCCGCCGCC
623248.53
10
117543427
.
GCCGCCGCCGCCGCC
G
590226.49
10
117543431
rs764263360
C
T
495107.23
10
117543432
.
C
T
498097.65
10
117543437
rs751783182
C
T
3010.42
10
117543438
.
C
T
3055.77
10
117543440
rs549784838
C
A
40630.97
10
117543441
.
C
CTT
2844.68
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
117543426
rs766989996
GGCCGCC
GGCC,G,GGCCGCCGCC
32279.36
10
117543440
rs549784838
C
A
1568.67
10
117543443
.
C
A
377.47
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
117543426
rs756693906
GGCC
G
.
10
117543426
rs794726911
GGCCGCC
G
.
10
117543431
rs764263360
C
T
.
10
117543437
rs751783182
C
T
.
10
117543439
.
G
GC
.
10
117543440
rs549784838
C
A
.
10
117543444
.
C
CG
.