DRED

General information of RDP00319
Gene Symbol:SMG1
RefSeq ID:NM_015092
Repeat coordinate:chr16:18925988-18926006 (-)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 1.000; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:GGGGG
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
Infiltrating duct carcinoma of female breastNM_0150920.3000UNIPROT
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
18925987
.
TGCC
T
.
16
18926003
rs375781376
G
A
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
18925987
rs550064983
TGCCGCCGCC
TGCCGCC,TGCCGCCGCCGCC,T,TGCC,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC
351755.10
16
18925991
rs756305316
G
T
17966.35
16
18925997
rs777870806
G
A
17022.34
16
18925999
.
C
T
2819.48
16
18926000
rs749180940
GC
G
259.98
16
18926002
rs770961779
CGCCGCT
TGCCGCT,C
943.97
16
18926003
rs375781376
G
A,T
124694.06
16
18926005
rs775301161
CGCT
TGCT,C,CGCTGCT
77785.68
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
18925987
rs550064983
TGCCGCCGCC
TGCC,TGCCGCCGCCGCC,TGCCGCC,T,TGCCGCCGCCGCCGCC
15413.57
16
18925990
.
C
T
7284.60
16
18925999
.
C
T
274.47
16
18926000
rs749180940
G
T
403.47
16
18926002
rs770961779
CGCCGCT
C
380.47
16
18926003
rs375781376
G
A
19583.75
16
18926005
rs775301161
CGCT
C
8853.79
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
18925987
rs781029159
TGCC
T
.
16
18925987
rs769375585
TGCCGCC
T
.
16
18925987
rs747829828
TGCCGCCGCC
T,TGCC,TGCCGCC,TGCCGCCGCCGCC,TGCCGCCGCCGCCGCC
.
16
18925991
rs756305316
G
T
.
16
18925997
rs777870806
G
A
.
16
18925999
.
C
CG
.
16
18926000
.
G
GC
.
16
18926000
rs749180940
GC
G
.
16
18926002
rs770961779
CGCCGCT
C
.
16
18926003
rs375781376
G
A,T
.
16
18926005
rs775301161
C
T
.
16
18926005
.
CGCT
C,TGCT
.
16
18926005
rs773997323
CGCT
C,CGCC
.