General information of RDP00527
Gene Symbol:BBX
RefSeq ID:NM_001142568
Repeat coordinate:chr3:107523219-107523246 (+)
Repeat size:9
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.999; 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 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
107523218
.
AGCG
AGCGGCG,A
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
107523218
rs63194160
AGCGGCGGCGGCG
AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG,AGCGGCGGCG,AGCG,AGCGGCGGCGGCGGCGGCGGCG,A
2455135.63
3
107523226
.
C
T
49361.74
3
107523230
.
G
T
24080.88
3
107523236
.
G
GGCGGCGGCGGCA
2214.96
3
107523237
.
G
A
1439.15
3
107523241
.
C
T
383.44
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
107523215
.
AGCAGCGGCGGC
AGCAGCGGC
.
3
107523218
rs36094031
AGCG
A,AGCGGCG,AGCGGCGGCG
.
3
107523218
rs776235129
AGCGGCGGCG
A
.
3
107523218
.
AGCGGCGGCGGCG
A
.
3
107523219
.
GCGGCGG
GCGG
.
3
107523221
rs751886004
G
T
.
3
107523232
.
C
CG
.
3
107523233
.
GGC
G
.
3
107523237
.
G
GC
.
3
107523246
rs550608610
G
C
.