General information of RDP00379
Gene Symbol:AARD
RefSeq ID:NM_001025357
Repeat coordinate:chr8:116938487-116938505 (+)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.030; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:AAAAA
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
8
116938485
.
AGGCGGC
A
100
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
116938485
.
AGGCGGC
A,AGGC
.
8
116938488
rs374262247
C
A
.
8
116938499
rs187578345
G
A
.
8
116938500
rs369425409
C
A
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
116938485
rs777722026
AGGCGGCGGC
AGGCGGC,AGGCGGCGGCGGC,AGGC,AGGCGGCGGCGGCGGC,AGGAGGCGGCGGCGGCGGC,A
427851.03
8
116938488
rs374262247
C
T,A
344863.73
8
116938491
rs566716899
C
T,G
229280.55
8
116938492
.
G
T
5634.26
8
116938493
rs770410263
G
GCGT
5240.51
8
116938495
.
G
C
138.69
8
116938496
rs747967818
G
A
59.61
8
116938497
rs534177737
C
G
6679.03
8
116938498
rs777740920
G
A
5265.78
8
116938499
rs187578345
G
A
247694.15
8
116938500
rs369425409
C
A,T
248573.73
8
116938504
.
G
C
57.36
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
116938485
rs777722026
AGGCGGC
A,AGGAGGCGGCGGCGGCGGCGGCGGCGGCGGC,AGGCGGCGGC,AGGAGGCGGCGGCGGC,AGGC,AGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
203849.66
8
116938488
rs374262247
C
T
137920.70
8
116938489
.
G
T
131774.06
8
116938491
rs566716899
C
G
132704.60
8
116938492
.
G
T
1283.74
8
116938494
.
C
CGGA
1737.24
8
116938498
rs777740920
G
A
657.41
8
116938499
rs187578345
G
A
245615.82
8
116938500
rs369425409
C
A
245248.28
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
116938485
.
AGGC
A
.
8
116938485
rs757468249
AGGC
A
.
8
116938485
rs575118752
AGGCGGC
A,AGGAGGCGGCGGCGGC,AGGC,AGGCGGCGGC,AGGCGGCGGCGGC
.
8
116938488
rs374262247
C
A,T
.
8
116938488
.
C
CG
.
8
116938491
rs566716899
C
G
.
8
116938493
rs770410263
G
GCGT
.
8
116938496
rs747967818
G
A
.
8
116938496
.
G
GC
.
8
116938497
rs534177737
C
G
.
8
116938498
rs777740920
G
A
.
8
116938499
rs187578345
G
A
.
8
116938499
.
GC
AA
.
8
116938500
rs369425409
C
A
.
8
116938501
.
G
A
.
8
116938501
.
GGC
AGA
.
8
116938503
.
C
G
.