| General information of RDP00294 | |
|---|---|
| Gene Symbol: | STUM |
| RefSeq ID: | NM_001003665 |
| Repeat coordinate: | chr1:226548932-226548953 (+) |
| Repeat size: | 7 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.496; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAAA |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
226548932
.
ACGG
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
226548932
rs759835997
ACGGCGGCGGCGGCGGCGGCGGTGG
ACGGCGGCGGCGGCGGCGGTGG,ACGGCGGCGGCGGCGGCGGCGGCGGTGG,ACGGCGGCGGCGGTGG,ACGGCGGCGGCGGCGGTGG,A,ACGGCGGCGGTGG
177881.09
1
226548933
rs546139392
CGGCGGCGGCGGCGGCGGCGGT
C,GGGCGGCGGCGGCGGCGGCGGT
168318.85
1
226548934
rs748820185
G
A
149154.02
1
226548935
.
G
A
151429.58
1
226548936
rs753100697
CGGCGGCGGCGGCGGCGGT
TGGCGGCGGCGGCGGCGGT,C
29673.15
1
226548939
.
CGGCGGCGGCGGCGGT
C
25366.10
1
226548942
rs761210115
CGGCGGCGGCGGT
C,TGGCGGCGGCGGT
18765.24
1
226548945
.
C
T
18198.42
1
226548946
.
G
A
17901.76
1
226548948
.
C
T,CGGCGGT
19716.81
1
226548951
.
C
T
28107.68
1
226548953
.
G
T
17847.74
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
226548932
rs759835997
ACGGCGGCGGCGGCGGCGGCGGTGG
ACGGCGGCGGCGGCGGCGGCGGCGGTGG,ACGGCGGCGGCGGCGGCGGTGG,ACGGCGGCGGCGGTGG,ACGGCGGCGGCGGCGGCGGCGGCGGCGGTGG,A
5323.78
1
226548933
rs546139392
C
G
3720.62
1
226548936
rs753100697
CGGCGGCGGCGGCGGCGGT
C
4237.94
1
226548939
.
CGGCGGCGGCGGCGGT
C
4365.11
1
226548942
rs761210115
CGGCGGCGGCGGT
C,CGGCGGCGGCGGTGGCGGCGGCGGT
4044.25
1
226548948
.
C
CGGCGGT
3906.71
1
226548953
.
G
A
3720.65
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
226548931
.
GAC
G
.
1
226548932
rs773995794
ACGG
A
.
1
226548932
rs770564065
ACGGCGGCGG
A
.
1
226548932
rs767891359
ACGGCGGCGGCGG
A
.
1
226548932
rs762420814
ACGGCGGCGGCGGCGGCGGCGGTGG
ACGGCGGCGGCGGCGGCGGCGGCGGTGG,ACGGCGGCGGCGGCGGCGGTGG,ACGGCGGCGGCGGTGG,ACGGCGGCGGTGG,A
.
1
226548933
rs546139392
C
G
.
1
226548934
rs748820185
G
A
.
1
226548935
.
GC
G
.
1
226548936
rs753100697
CGGCGGCGGCGGCGGCGGT
C,CGGCGGCGGCGGTGGCGGT
.
1
226548939
.
C
T
.
1
226548941
rs564035802
G
C
.
1
226548942
rs761210115
CGGCGGCGGCGGT
C
.