| General information of RDP00402 | |
|---|---|
| Gene Symbol: | GRM1 |
| RefSeq ID: | NM_001278064 |
| Repeat coordinate: | chr6:146434493-146434508 (+) |
| Repeat size: | 5 |
| Repeat region: | CDS |
| Repeat unit: | GAC |
| Repeat conservation: | PhastCons_score: 0.660; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | DDDDD |
| 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, autosomal recessive 13, 614831 (3) | 604473 | 6q24.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| SPINOCEREBELLAR ATAXIA 44 | NM_001278064 | 0.61 | 1 | 3 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
146434493
rs756131429
GGAC
G,GGACGAC,GGACGACGAC
56592.48
6
146434496
rs568155311
C
A
23128.07
6
146434501
.
A
G
6018.57
6
146434505
.
C
G,T
4993.38
6
146434506
rs536746121
G
T
14901
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
146434496
rs568155311
C
T
1327.68
6
146434506
rs536746121
G
T
496.39
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
146434493
.
GGAC
G
.
6
146434493
rs750936487
GGAC
G,GGACGAC
.
6
146434496
rs568155311
C
A
.
6
146434506
rs536746121
G
T
.