| General information of RDP00190 | |
|---|---|
| Gene Symbol: | SLIT2 |
| RefSeq ID: | NM_001289135 |
| Repeat coordinate: | chr4:20251998-20252019 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.114; 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 |
| Liver carcinoma | NM_001289135 | 0.33 | 1 | 0 | CTD_human |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
20251993
.
AGAAGGCGGC
A
100
4
20251996
.
AGGCGGC
CGGCGGC,A
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
20251993
rs540373974
AGAAGGCGGC
A
46296.51
4
20251996
rs370721760
AGGCGGC
CGGCGGC,AGGCGGCGGC,AGCGGCGGCGGC,AGGCGGCGGCGGC,A
286568.81
4
20252001
.
G
A
60782.24
4
20252011
.
C
CGGCGGCGGA
2363.15
4
20252014
.
C
CGGCGGA,CGGCGGAGGCGGA
2832.08
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
20251993
rs540373974
AGAAGGCGGC
A
.
4
20251996
.
AGGCGGC
A,CGGCGGC
.
4
20251996
.
AGGC
A
.
4
20251996
rs552851809
AGGCGGC
A
.
4
20252014
.
C
A
.