General information of RDP00345
Gene Symbol:ATRN
RefSeq ID:NM_001323332
Repeat coordinate:chr20:3471357-3471375 (+)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.368; 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 DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Nerve DegenerationNM_0013233320.3010CTD_human
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
3471356
.
CGCG
C
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
3471347
.
GGCCGAGGCCGCGGCGGCGGCGGCGGCGGTGTCGGGCTCAGCCGCA
AGCCGAGGCCGCGGCGGCGGCGGCGGCGGTGTCGGGCTCAGCCGCA,G
298.59
20
3471356
rs766824235
CGCGGCG
CGCG,CGCGGCGGCG,CGCGGCGGCGGCG,C
481043.29
20
3471359
.
G
C
440110.55
20
3471360
.
G
A
2392.28
20
3471365
.
G
A
364.43
20
3471367
rs542464289
C
T
575.52
20
3471370
.
CGGCGGT
TGGCGGT,C,CGGCGGTGGCGGT
996.93
20
3471371
rs762116548
G
A
3264.22
20
3471373
.
C
T
3155.19
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
3471356
rs766824235
CGCGGCGGCG
CGCGGCG,CGCGGCGGCGGCG,CGCGGCGGCGGCGGCG,C
5858.16
20
3471361
.
CGGCGGCGGCGGCGGT
C
1062.84
20
3471367
rs542464289
C
T
1235.14
20
3471369
.
GCGGCGGTGT
G
911.43
20
3471371
rs762116548
G
A
2829.08
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
3471356
rs761060489
CGCG
C,CGCGGCG,CGCGGCGGCG
.
20
3471361
.
C
G
.
20
3471367
rs542464289
C
G,T
.
20
3471370
.
CG
GC
.
20
3471371
rs762116548
G
A
.