| General information of RDP00619 | |
|---|---|
| Gene Symbol: | CNIH3 |
| RefSeq ID: | NR_136288 |
| Repeat coordinate: | chr1:224434689-224434707 (+) |
| Repeat size: | 6 |
| Repeat region: | exon |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.998; 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 |
| Endometrioma | NR_136288 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
224434688
rs779741438
TGCGGCGGCG
TGCGGCG,TGCGGCGGCGGCGGCG,TGCGGCGGCGGCG,GGCGGCGGCG,T,TGCGGCGGCGGCGGCGGCG
101320.84
1
224434694
.
G
T
3408.70
1
224434707
.
G
GCGGCGT
577.66
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
224434693
.
C
CG
.
1
224434699
.
C
G
.