General information of RDP00094
Gene Symbol:RAP2A
RefSeq ID:NM_021033
Repeat coordinate:chr13:97434439-97434457 (+)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.562; 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
Rheumatoid ArthritisNM_0210330.3010CTD_human
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
97434437
.
GGGC
GGGCGGC,G
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
97434437
rs768018180
GGGCGGCGGC
GGGCGGC,GGGCGGCGGCGGC,GGGC,GGGCGGCGGCGGCGGC,G,GGGCGGCGGCGGCGGCGGC
479214.97
13
97434440
.
C
CGGA
349904.44
13
97434441
rs751113354
G
T
25770.91
13
97434444
.
G
A
10936.69
13
97434446
rs756869866
C
T
12676.27
13
97434449
.
C
T
1129.38
13
97434453
rs757609120
G
A,GGCGGCC
4241.81
13
97434454
rs780689796
G
A
4507.43
13
97434456
rs749767702
G
C
17493.84
13
97434457
rs769076387
G
A
2995.86
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
97434437
rs768018180
GGGCGGCGGC
GGGCGGCGGCGGC,GGGCGGC,GGGC,GGGCGGCGGCGGCGGC,G
13012.43
13
97434453
rs757609120
G
A
275.51
13
97434456
rs749767702
G
C
779.16
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
97434437
.
GGGC
G
.
13
97434437
rs755279212
GGGC
G
.
13
97434437
rs777948588
GGGCGGC
G
.
13
97434437
rs756171551
GGGCGGCGGC
G,GGGC,GGGCGGC,GGGCGGCGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC
.
13
97434441
rs751113354
G
T
.
13
97434446
rs756869866
C
T
.
13
97434452
.
C
G
.
13
97434453
rs757609120
G
GGCGGCC
.
13
97434454
rs780689796
G
A
.
13
97434456
rs749767702
G
C
.
13
97434457
rs769076387
G
A
.