| General information of RDP00063 | |
|---|---|
| Gene Symbol: | KCNMA1 |
| RefSeq ID: | NM_001014797 |
| Repeat coordinate: | chr10:77637741-77637759 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.859; 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 |
| Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3) | 600150 | 10q22.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | NM_001014797 | 0.41 | 1 | 1 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
77637740
rs781056387
TGCC
T,TGCCGCC,TGCCGCTGCCGCC,TGCCGCCGCC,TGCCGCTGCCGCCGCC
46706.89
10
77637743
.
C
CGCT
1215.39
10
77637744
.
G
A
118.94
10
77637746
rs192912320
C
T
360.06
10
77637752
.
C
A
143.56
10
77637756
.
G
A
273.64
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
77637743
.
C
CGCT
.
10
77637744
.
GCCG
GCTG
.
10
77637746
rs192912320
C
T
.
10
77637753
.
G
C
.