| General information of RDP00009 | |
|---|---|
| Gene Symbol: | CCM2L |
| RefSeq ID: | NM_080625 |
| Repeat coordinate: | chr20:32031239-32031254 (+) |
| Repeat size: | 5 |
| Repeat region: | 3' UTR |
| Repeat unit: | GAC |
| Repeat conservation: | PhastCons_score: 0.664; 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
20
32031239
rs139704146
TGACGACGAC
TGACGACGACGAC,TGACGAC,TGACGACGACGACGAC,TGAC,CGACGACGAC,T
4120601.51
20
32031243
.
G
A
2043.17
20
32031245
.
C
G
6398.41
20
32031246
rs758573932
G
A
2343.35
20
32031248
rs552082280
C
T,A
8199.35
20
32031249
rs552472243
G
A,C
142737.96
20
32031254
.
C
G
4473.93
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
32031239
rs139704146
TGAC
TGACGAC,TGACGACGAC,T
701684.05
20
32031245
.
C
G
1928.96
20
32031248
rs552082280
C
A
379.48
20
32031249
rs552472243
G
A
16888.12
20
32031254
.
C
G
380.47
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
32031239
.
TGAC
T
.
20
32031239
rs749216690
TGACGACGAC
T,TGACGACGACGAC,TGACGACGACGACGAC
.
20
32031246
rs758573932
G
A
.
20
32031248
rs552082280
C
A
.
20
32031249
rs552472243
G
A
.