| General information of RDP00311 | |
|---|---|
| Gene Symbol: | SOX1 |
| RefSeq ID: | NM_005986 |
| Repeat coordinate: | chr13:112068550-112068571 (+) |
| Repeat size: | 7 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.885; 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 ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
112068498
rs751992852
CGCGGCCGCCGCCGCCGCCGCTGCGGGCGGCGCGCACCAGAACTCGGCCGTGGCGGCGGCGGCGGCGGCG
C,CGCGGGCGGCGCGCACCAGAACTCGGCCGTGGCGGCGGCGGCGGCGGCG
5363.71
13
112068548
.
TGGC
T
16707.32
13
112068570
.
G
A
53.03
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
112068548
.
TGGCGGCGGCGGC
TGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGC,TGGC,T,TGGCGGCGGCGGCGGCGGCGGC
46979.56
13
112068551
.
C
T
32622.73
13
112068564
.
G
C
115.44
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
112068548
.
TGGC
T
.
13
112068559
.
G
GC
.