| General information of RDP00467 | |
|---|---|
| Gene Symbol: | MMP2 |
| RefSeq ID: | NM_001302508 |
| Repeat coordinate: | chr16:55479278-55479299 (+) |
| Repeat size: | 7 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.172; 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 |
| Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3) | 120360 | 16q12.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Marfan Syndrome, Type I | NM_001302508 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
55479279
319741
C
G
.
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
55479277
rs567092201
TGCGGCGGCGGCGGCG
TGCGGCGGCGGCG,TGCGGCGGCGGCGGCGGCG,T
11357.49
16
55479286
.
G
C,A
2604.67
16
55479296
.
G
A
167.47
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
55479277
rs567092201
TGCG
T
.