| General information of RDP00462 | |
|---|---|
| Gene Symbol: | NR2F2 |
| RefSeq ID: | NM_001145155 |
| Repeat coordinate: | chr15:96330400-96330421 (+) |
| Repeat size: | 7 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.005; 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 |
| Congenital heart defects, multiple types, 4, 615779 (3) | 107773 | 15q26.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Chemically-Induced Liver Toxicity | NM_001145155 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
96330400
rs560453342
TCGGCGGCGG
TCGGCGGCGGCGGCGG,TCGGCGG,TCGGCGGCGGCGGCGGCGG,TCGGCGGCGGCGG,T,TCGG
2336534.21
15
96330409
.
G
A
123786.01
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
96330400
.
TCGGCGGCGG
T
.
15
96330400
.
TCGG
T
.
15
96330400
rs561714756
TCGGCGGCGG
TCGGCGGCGGCGG,TCGGCGGCGGCGGCGG,T
.
15
96330413
.
C
CG
.
15
96330421
.
GCG
CCC
.