DRED

General information of RDP00089
Gene Symbol:TMED2
RefSeq ID:NM_001321445
Repeat coordinate:chr12:123584566-123584590 (+)
Repeat size:8
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.738; 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
Myocardial IschemiaNM_0013214450.3010CTD_human
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
123584586
rs770590631
GGCGGC
G
2026.57
12
123584587
.
G
A
2085.81
12
123584588
rs753157812
CGG
TGG,GGG,C,CTGTGG,CGGCTGTGG
4399.93
12
123584589
rs536717436
G
A
3973.45
12
123584590
rs780633087
G
A
3112.62
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
123584538
.
AGGCGGCGGTGGCTGAGAAGGCAGCGGGGC
A
493.60
12
123584564
rs780331424
GGGCGGCGGCGGC
GGGCGGCGGC,G,GGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC
22404940.80
12
123584565
.
GGC
G
22226261.15
12
123584582
rs569859380
C
T
5083.77
12
123584586
rs770590631
G
GGCT,A
4287.75
12
123584588
rs753157812
C
CTGT
3536.12
12
123584590
rs780633087
G
A
3948.16
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
123584564
.
GGGC
G
.
12
123584564
rs398056033
GGGC
G,GGGCGGC
.
12
123584564
.
GGGCGGC
G,GGGC
.
12
123584564
rs76346687
GGGCGGCGGCGGC
G,GGGCGGCGGC
.
12
123584565
.
GGCGGCGGC
GGCGGC
.
12
123584565
.
GGCGGCGGCGGCGGCGGC
GGCGGCGGCGGCGGC
.
12
123584567
.
C
G
.
12
123584573
.
C
G
.
12
123584576
rs551143423
C
A,G
.
12
123584576
rs557505778
CG
C
.
12
123584581
.
G
A
.
12
123584582
rs569859380
C
T
.
12
123584585
.
C
T
.
12
123584586
rs770590631
GGCGGC
G
.
12
123584588
rs753157812
C
G
.
12
123584588
rs774038061
CGG
C
.
12
123584589
rs536717436
G
A,T
.
12
123584590
rs780633087
G
A
.