| General information of RDP00443 | |
|---|---|
| Gene Symbol: | WAC |
| RefSeq ID: | NM_100264 |
| Repeat coordinate: | chr10:28533161-28533179 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.589; 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 |
| Desanto-Shinawi syndrome, 616708 (3) | 615049 | 10p12.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| CHROMOSOME 10p12-p11 DELETION SYNDROME | NM_100264 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
28533160
rs569195842
AGCG
A,GGCG,AGCGGCG,AGCGGCGGCG,AGCGGCGGCGGCG
247984.64
10
28533173
.
G
A
267.49
10
28533177
.
C
G
56445.39
10
28533178
.
GGGAGGA
GGGA,AGGAGGA,GGGAGGAGGA,G
74738.51
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
28533160
.
AGCGGCGGCG
A
.
10
28533177
.
CG
GA
.
10
28533177
.
CGGGA
GAGGA
.