| General information of RDP00152 | |
|---|---|
| Gene Symbol: | EIF2AK2 |
| RefSeq ID: | NM_001135651 |
| Repeat coordinate: | chr2:37156912-37156939 (-) |
| Repeat size: | 9 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.004; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Simple Partial Status Epilepticus | NM_001135651 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
37156910
rs564207041
GCGCCGCCGCCGC
G,GCGC,GCGCCGCCGCCGCCGC,GCGCCGCCGC,GCGCCGCCGCCGCCGCCGC,GCGCCGCCGCCGCCGCCGCCGC
2765646.99
2
37156917
.
C
T
1482519.69
2
37156922
.
C
CCGA
188462.54
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
37156910
rs780396847
GCGC
GCGCCGCCGC,G
.
2
37156910
rs756959069
GCGCCGCCGC
GCGCCGCCGCCGC,G
.
2
37156910
.
GCGCCGCCGCCGC
GCGC,GCGCCGCCGCCGCCGC,G
.
2
37156918
rs560574348
G
C
.