| General information of RDP00340 | |
|---|---|
| Gene Symbol: | SP9 |
| RefSeq ID: | NM_001145250 |
| Repeat coordinate: | chr2:174337472-174337493 (+) |
| Repeat size: | 7 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.141; 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
2
174337446
rs778817750
GGGCGGCGGCAGCGGCGGCGGCGGCAGC
GGGCGGCGGCAGC,CGGCGGCGGCAGCGGCGGCGGCGGCAGC,G,GGGCGGCGGCGGCAGC
1485399.54
2
174337456
rs754681222
AGCGGCGGCGGCGGCAGCGGCGGCGGCG
AGCG,AGCGGCGGCG,A,AGCGGCG,AGCGGCGGCGGCGGCGGCAGCGGCGGCGGCG
2797148.07
2
174337471
rs779431757
AGCGGCGGCGGCGGCG
AGCGGCGGCGGCG,GGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG,A
1594634.78
2
174337474
.
G
A
1371049.81
2
174337475
.
G
T
1343926.07
2
174337477
rs779199326
G
A,GGCA
1318392.54
2
174337480
.
G
A
1300284.17
2
174337483
rs746206374
GGCGGCGGCGGCCTCC
G,AGCGGCGGCGGCCTCC
58334.33
2
174337485
rs747108007
CGGCGGCGGCCTCCGCGGGA
C
35665.25
2
174337486
.
GGCGGCGGCCTCC
G,AGCGGCGGCCTCC
53658.14
2
174337487
.
G
T
32983.57
2
174337491
.
CGGCCTCCGCGGGA
C,CGA
44820.10
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
174337446
rs778817750
GGGCGGCGGCAGCGGCGGCGGCGGCAGC
GGGCGGCGGCAGC,GGGCGGCGGCGGCAGCGGCGGCGGCGGCAGC,GGGCGGCGGCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGC,G,AGGCGGCGGCAGCGGCGGCGGCGGCAGC
254967.29
2
174337456
rs754681222
AGCGGCGGCGGCGGCAGCGGCGGCG
A,AGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCG,AGCGGCGGCGGCGGCGGCAGCGGCGGCG,AGCGGCGGCGGCGGCGGCGGCAGCGGCGGCG,AGCGGCG
505686.97
2
174337471
rs779431757
AGCGGCGGCGGCGGCG
GGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG,A
526341.52
2
174337473
.
C
T
148243.26
2
174337474
.
G
C
145444.05
2
174337477
rs779199326
G
GGCA
143743.85
2
174337486
.
G
A
3669.26
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
174337446
rs762751407
GGGCGGCGGCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGC
G
.
2
174337456
rs752188831
AGCGGCGGCGGCGGCAGCG
A
.
2
174337456
rs767151085
AGCGGCGGCGGCGGCAGCGGCG
A
.
2
174337456
rs754681222
AGCGGCGGCGGCGGCAGCGGCGGCG
A
.
2
174337471
rs746223726
AGCG
A
.
2
174337471
.
AGCGGCGGCG
A
.
2
174337474
.
G
A
.
2
174337476
.
C
CG
.
2
174337477
rs779199326
G
A
.
2
174337483
rs746206374
G
A
.
2
174337485
rs747108007
CGGCGGCGGCCTCCGCGGGA
C
.