| General information of RDP00174 | |
|---|---|
| Gene Symbol: | ASCC2 |
| RefSeq ID: | NM_001242906 |
| Repeat coordinate: | chr22:29838204-29838228 (-) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.173; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| 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
22
29838205
.
C
A
21155043.69
22
29838206
rs561476505
C
T
21148563.02
22
29838207
.
G
GCCGCCGCCT
2901659.71
22
29838210
.
G
T
114568.02
22
29838212
.
C
A
113360.48
22
29838213
.
G
A,C
39733
22
29838216
rs796971698
G
GCCGCCA
4057.88
22
29838217
.
C
T
3777.66
22
29838222
.
G
GCCGCCGCCGCCT
3514.29
22
29838223
.
C
CCGACGCCGCCGCCGCCGCCGT
446.69
22
29838225
rs3838960
G
A
120.20
22
29838227
rs747091730
C
G,A
14050.43
22
29838228
rs764876330
GA
G,GCCGCCA,GCCGCCGCCGCCA,GCCGCCGCCA,CA
8066.85
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
29838203
rs573886055
TGCC
T,TGCCGCCGCC,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCC,TGCCGCC,TGCCGCCGCCGCCGCC
13197339.70
22
29838205
.
C
T
4077522.46
22
29838206
rs561476505
C
CGCCGCA
4077449.60
22
29838211
.
C
CCGCCGA
16368.79
22
29838212
.
C
A
16368.79
22
29838222
.
G
GCCGCCGCCGCCT
602.48
22
29838226
rs759597045
C
CCGCCGT
1584.47
22
29838227
rs747091730
C
A
606.43
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
29838203
.
TGCC
GGCC,T
.
22
29838203
.
TGCCGCC
GGCCGCC
.
22
29838203
rs3838960
TGCC
T,TGCCGCC,TGCCGCCGCC,TGCCGCCGCCGCC,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC
.
22
29838203
.
TGCCGCC
T,TGCC
.
22
29838203
.
TGCCGCCGCCGCC
T
.
22
29838206
rs561476505
C
A,T
.
22
29838209
rs777987273
C
T
.
22
29838213
.
G
C
.
22
29838216
rs796971698
G
T
.
22
29838223
.
CCGCCGA
CCGCCGT
.
22
29838223
.
CCGC
C
.
22
29838225
.
G
GC
.
22
29838226
.
CCGA
CCGT
.
22
29838226
.
C
CCGCCGG
.
22
29838226
rs759597045
CCGA
C
.
22
29838227
rs747091730
C
A
.
22
29838228
.
GA
GCCGCCGT,GCCGT
.
22
29838228
rs764876330
G
GCCGCCGCCGCCGCC,GCCGCCGCC,GCCGCC,GCCGGCG
.