| General information of RDP00346 | |
|---|---|
| Gene Symbol: | CCM2L |
| RefSeq ID: | NM_080625 |
| Repeat coordinate: | chr20:32019234-32019252 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.983; 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 ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
32019228
rs779813482
ACGGAGGCGGCGGCGGCGGCGGCGGCG
A,ACGGCGGCGGCGGCG
1953.56
20
32019232
rs749268099
AGGCGGC
AGGC,AGGCGGCGGC,AGGCGGCGGCGGC,AGGCGGCGGCGGCGGC,A
62315.16
20
32019250
.
CG
C
22260.55
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
32019232
rs749268099
AGGCGGC
AGGC,AGGCGGCGGCGGCGGC,A,AGGCGGCGGCGGC,AGGCGGCGGC
110697.53
20
32019238
.
C
T
50150.46
20
32019241
.
C
T
885.51
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
32019228
rs779813482
ACGGAGGCGGCGG
A
.
20
32019232
rs749268099
AGGC
A
.
20
32019232
.
AGGCGGC
A
.
20
32019236
.
GGC
TGT
.
20
32019238
.
C
CG
.
20
32019241
.
C
G
.
20
32019249
.
G
C
.
20
32019251
.
GGCG
GGCC
.