| General information of RDP00106 | |
|---|---|
| Gene Symbol: | GABRB3 |
| RefSeq ID: | NM_000814 |
| Repeat coordinate: | chr15:26773041-26773062 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.266; 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 |
| {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3) | 137192 | 15q12 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Absence Seizure Disorder | NM_000814 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
26773040
rs548775630
TGCCGCC
TGCC,T,TGCCGCCGCCGCC
16289684.11
15
26773050
.
G
A
458.54
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
26773023
.
GGGGCTGCTCCTGCTGCTGCCGCCGCCGCCGCCGCCG
GGGGCTGCTCCTGCTGCTGCCGCCGCCGCCGCCG
.
15
26773029
.
GCTCCTGCTGCTGCC
GCTCCTGCTGCT
.
15
26773029
.
GCTCCTGCTGCTGCCGCCGCCGC
GCTCCTGCTGCTGCCGCCGC
.
15
26773029
.
GCTCCTGCTGCTGCCGCCGCCGCCG
GCTCCTGCTGCTGCCGCCGCCG
.
15
26773034
.
TGCTGCTGCC
TGCTGCT
.
15
26773036
.
CTGCTGCC
CTGCT
.
15
26773036
.
CTGCTGCCGC
CTGCTGC
.
15
26773038
.
GCTGCC
GCT
.
15
26773038
.
GCTGCCGCC
GCTGCC
.
15
26773040
.
TGCC
T
.
15
26773040
rs548775630
TGCC
TCCC,T
.
15
26773040
.
TGCCGCC
T,TGCC
.
15
26773041
.
GCCG
G
.
15
26773041
.
GCCGC
GC
.
15
26773041
.
GCCGCCG
GCCG
.
15
26773043
.
C
T
.
15
26773044
.
G
C
.
15
26773047
.
G
T
.
15
26773055
.
CG
GA
.
15
26773061
.
C
G
.