| General information of RDP00666 | |
|---|---|
| Gene Symbol: | CNIH3 |
| RefSeq ID: | NR_136288 |
| Repeat coordinate: | chr1:224616329-224616347 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.114; 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 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
224616343
.
G
GGCGGCA
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
224616327
.
AGGC
AGGCGGCGGCGGC,AGGCGGC,A,AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,AGGCGGCGGC
9251.76
1
224616334
.
G
GGCGGCGGCGGCGGCGGCGGCGGCGGCA
197.49
1
224616340
.
G
GGCGGCGGCAGCGGCGGCA
175.47
1
224616343
rs554519229
G
GGCGGCA,GGCGGCAGCGGCAGCGGCA,GGCGGCAGCGGCAGCGGCAGCGGCA,GGCGGCAGCGGCA,GGCGGCGGCGGCGGCGGCA,A
378209.82
1
224616346
rs762433204
G
GGCA,GGCAGCGGCA
4100.55
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
224616327
.
AGGC
A
.
1
224616328
.
GGCGGCGGCG
GGCGGCGACA
.
1
224616332
.
G
GC
.
1
224616333
.
C
CG
.
1
224616334
.
G
A
.
1
224616335
.
GCG
ACA,GCCG
.
1
224616337
rs538230193
G
A
.
1
224616339
.
CGGCGGCG
CGGCAGCG
.
1
224616343
rs550279419
G
A
.
1
224616343
rs554519229
G
GGCGGCAGCGGCAGCGGCA,GGCGGCA
.
1
224616346
.
G
A
.
1
224616346
rs762433204
G
GGCA
.
1
224616347
.
GCA
GCG
.