| General information of RDP00139 | |
|---|---|
| Gene Symbol: | CACNA1A |
| RefSeq ID: | NM_000068 |
| Repeat coordinate: | chr19:13506278-13506299 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.096; 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 OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Spinocerebellar ataxia 6, 183086 (3) | 601011 | 19p13.13 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Absence Seizure Disorder | NM_000068 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
13506276
rs763446695
ACGCCGCCGC
ACGCCGCCGCCGC,ACGCCGC,ACGCCGCCGCCGCCGCCGC,A,ACGCCGCCGCCGCCGC,ACGC
1137466.72
19
13506282
.
C
A
5465.68
19
13506285
.
C
A
3780.66
19
13506286
.
C
T
946.45
19
13506289
rs549054548
CGCCGCCGCCGCT
C
1069.46
19
13506292
rs15998
C
CGCCGCCGCT
2921.05
19
13506296
.
G
C
755.44
19
13506298
.
CGCT
CGCTGCT,C
1184.17
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
13506276
rs746462397
ACGC
A
.
19
13506289
rs549054548
C
T
.
19
13506289
.
C
CG
.
19
13506290
.
G
GC
.
19
13506290
.
G
GC
.
19
13506292
rs15998
C
CG,T
.
19
13506292
.
C
CG
.
19
13506295
.
C
CG
.
19
13506298
.
C
CG
.