| General information of RDP00634 | |
|---|---|
| Gene Symbol: | SERPINB8 |
| RefSeq ID: | NR_145571 |
| Repeat coordinate: | chr18:63970131-63970149 (+) |
| Repeat size: | 6 |
| Repeat region: | exon |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.002; 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 |
| Peeling skin syndrome 5, 617115 (3) | 601697 | 18q22.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| PEELING SKIN SYNDROME 5 | NR_145571 | 0.40 | 1 | 2 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
18
63970124
.
AGCAGCAGCGGCGGCGGCGGCGGCG
AGCGGCAGCAGCGGCGGCGGCGGCGGCG,A,AGCGGCGGCGGCGGCG
1327.63
18
63970130
rs535220347
AGCGGCGGCG
AGCGGCGGCGGCGGCG,AGCGGCGGCGGCG,AGCGGCG,AGCGGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCGGCG,A
5819396.46
18
63970133
.
G
GGCGGCGGCGGCGGCGGCGGCAGCAGCAGCA
66629.78
18
63970134
.
G
T
38054.36
18
63970135
.
C
A
38531.81
18
63970138
.
C
CA
38613.19
18
63970139
rs756216041
G
GGCGGCGGCGGCGGCGGCA,GCGGCGGCGGCGGCGGCA
237411.21
18
63970147
.
C
CGGCGG
1004.40
18
63970148
rs755147686
GGCA
G,GGCAGCA,GGCGGCAGCA,GGCGGCGGCAGCA,GGCAGCAGCA,GGCGGCGGCAGCAGCA
31950.23
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
18
63970130
.
AGCG
A
.
18
63970130
.
AGCGGCGGCG
A
.
18
63970139
rs756216041
G
A
.
18
63970139
rs757667727
G
GGCGGCC,GGCGGCGGCGGCA,GGCGGCGGCGGCGGCGGCA
.
18
63970142
rs751573134
GGCGGCGGCA
G
.
18
63970148
.
G
A
.
18
63970148
.
GGCA
G
.
18
63970148
rs755147686
G
GGCGGCC,GGCGGCGGCAGCA
.
18
63970148
.
GGCA
G,GGCG
.