| General information of RDP00160 | |
|---|---|
| Gene Symbol: | KCNK3 |
| RefSeq ID: | NM_002246 |
| Repeat coordinate: | chr2:26692711-26692732 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.648; 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 |
| Pulmonary hypertension, primary, 4, 615344 (3) | 603220 | 2p23.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Pulmonary Hypertension, Primary, 1 | NM_002246 | 0.40 | 0 | 1 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
26692710
.
CGCGGCGGCG
CGCGGCGGCGGCG,CGCGGCG,CGCG,C,CGCGGCGGCGGCGGCGGCGGCG
19602.64
2
26692715
.
C
A
3871.90
2
26692716
.
G
T
4565.12
2
26692728
.
G
A
53069.04
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
26692710
.
CGCGGCG
C
.
2
26692716
.
G
T
.
2
26692728
.
G
A
.