General information of RDP00267
Gene Symbol:CACNA1A
RefSeq ID:NM_001127222
Repeat coordinate:chr19:13207858-13207897 (-)
Repeat size:13
Repeat region:CDS
Repeat unit:CAG
Repeat conservation:PhastCons_score: 0.485; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:QQQQQQQQQQQQQ
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to OMIM:
PhenotypeOMIM_idLocation
Spinocerebellar ataxia 6, 183086 (3)60101119p13.13
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Absence Seizure DisorderNM_0011272220.3010CTD_human
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
13207858
.
CCTG
C
100
Mapping repeat track to ClinVar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
13207858
445458
CCTGCTG
C
.
19
13207869
252738
T
TCTG
.
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
13207858
rs193922932
CCTGCTGCTG
C,CCTG,CCTGCTG
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
13207855
.
CCGCCTG
C
16345.80
19
13207858
rs753460234
CCTGCTGCTGCTGCTGCTG
CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTG,C,CCTGCTGCTG
18131042.62
19
13207860
rs758470236
T
TGCTGCTGCTGCTGCTGCTGCC
14329778.94
19
13207861
rs777870362
G
C
14322707.75
19
13207862
rs751451365
CTGCTGCTGCTGCTG
C,CCTGCTGCTGCTG
10208803.02
19
13207864
rs757312849
G
C
10056559.20
19
13207871
.
C
T,A
925342.12
19
13207872
.
T
G
930324.36
19
13207874
.
C
G
876483.27
19
13207875
rs773822089
T
G
882138.96
19
13207878
.
TG
T
62857.71
19
13207880
.
CTGCTG
C
50419.66
19
13207893
.
TGCTGCG
T
22708.98
19
13207895
.
CTGCG
C
14571.98
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
13207857
rs772835259
GCC
GCCTCC,G
10540.61
19
13207858
rs753460234
CCTGCTGCTGCTGCTGCTGCTGCTGCTG
CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTG
10728782.23
19
13207860
rs758470236
TG
T
8756761.72
19
13207862
rs751451365
CTGCTGCTGCTGCTG
C
7325436.76
19
13207870
.
GC
G
1888357.06
19
13207872
.
TGC
T
1879156.85
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
13207857
.
GCCTGCTGCTGCTGCTGCTG
GC
.
19
13207858
rs370146696
CCTG
CCTGCTG,C
.
19
13207858
rs16054
CCTGCTG
CCTG,CCTGCTGCTG,C
.
19
13207858
rs752539801
CCTGCTGCTG
C
.
19
13207858
rs765169827
CCTGCTGCTGCTGCTGCTG
CCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTG,C
.
19
13207858
.
CCTGCTGCTGCTGCTGCTGCTGCTGCTG
CCTGCTGCTGCTGCTGCTGCTG,C
.
19
13207860
rs758470236
TG
T
.
19
13207861
rs777870362
GCT
G
.
19
13207862
rs751451365
CTG
C
.
19
13207864
.
G
C
.
19
13207864
rs757312849
GCTGCTGCTGCTGCTGCTGCTGCTGC
G
.
19
13207875
rs773822089
T
G
.
19
13207876
.
G
C
.