| General information of RDP00444 | |
|---|---|
| Gene Symbol: | ZMIZ1 |
| RefSeq ID: | NM_020338 |
| Repeat coordinate: | chr10:79243347-79243365 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 1.000; 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 |
| Abnormality of the urinary system | NM_020338 | 0.30 | 2 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
79243347
.
TCGG
T
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
79243347
rs543235060
TCGG
T,TCGGCGG
4371.98
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
79243347
rs543235060
TCGG
T
.
10
79243355
.
G
A
.