| General information of RDP00477 | |
|---|---|
| Gene Symbol: | SMAD4 |
| RefSeq ID: | NM_005359 |
| Repeat coordinate: | chr18:51030711-51030732 (+) |
| Repeat size: | 7 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.089; 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 |
| Polyposis, juvenile intestinal, 174900 (3) | 600993 | 18q21.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Familial thoracic aortic aneurysm and aortic dissection | NM_005359 | 0.50 | 1 | 0 | GENOMICS_ENGLAND;ORPHANET |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
18
51030711
rs533316618
ACGGCGGCGGCGG
ACGGCGGCGGCGGCGG,ACGGCGGCGGCGGCGGCGG,ACGGCGGCGGCGGCGGCGGCGG,ACGACGGCGGCGGCGGCGG,ACGGCGG,A
624714.31
18
51030713
.
G
T
4471
18
51030714
.
G
A
4394.99
18
51030715
.
C
T
3947.17
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
18
51030714
.
G
GC
.
18
51030715
.
C
CG
.
18
51030718
.
C
T
.