| General information of RDP00480 | |
|---|---|
| Gene Symbol: | SHANK1 |
| RefSeq ID: | NM_016148 |
| Repeat coordinate: | chr19:50695086-50695107 (-) |
| Repeat size: | 7 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.277; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Papillary Renal Cell Carcinoma | NM_016148 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
50695079
.
GGCCGCCCCCGCC
G
210.22
19
50695086
rs768896742
CCCGCCGCCG
CCCGCCG,CCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,CCCG,C
92443.75