| General information of RDP00181 | |
|---|---|
| Gene Symbol: | SLCO2A1 |
| RefSeq ID: | NM_005630 |
| Repeat coordinate: | chr3:134030038-134030059 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.425; 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 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3) | 601460 | 3q22.1-q22.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 | NM_005630 | 0.32 | 2 | 0 | ORPHANET |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134030053
.
G
GCCGCCC
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134030038
rs569102402
CCCGCCGCCG
CGCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCG,CCCGCCG,CCCG,C
321855.10
3
134030040
.
C
CGCT
19501.33
3
134030043
rs575654966
C
T
194790.12
3
134030049
rs544371998
C
T
18643.88
3
134030053
rs566769491
G
GCCGCCC
283.47
3
134030055
rs564653244
C
G
1066.41
3
134030059
.
G
GCCC
142.48
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134030038
.
CCCG
C
.
3
134030038
rs756532300
CCCGCCG
C
.
3
134030043
rs575654966
C
T
.
3
134030049
rs544371998
C
T
.
3
134030049
.
CG
TG
.
3
134030049
.
C
CG
.
3
134030050
.
G
C
.
3
134030050
.
G
GC
.
3
134030052
.
C
CG
.
3
134030053
.
G
C
.
3
134030053
rs566769491
G
GCCGCCC
.
3
134030055
rs564653244
C
G
.
3
134030056
.
G
C
.