| General information of RDP00043 | |
|---|---|
| Gene Symbol: | STK40 |
| RefSeq ID: | NM_001282546 |
| Repeat coordinate: | chr1:36385861-36385882 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.843; 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 |
| Adenocarcinoma of large intestine | NM_001282546 | 0.30 | 0 | 2 | UNIPROT |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
36385860
.
AGCCGCCGCCGCC
AGCCGCCGCCGCCGCC,AGCC,A
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
36385860
rs759917107
AGCCGCCGCCGCC
AGCCGCCGCCGCCGCC,A,AGCCGCCGCCGCCGCCGCC,AGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCCGCC
770668.37
1
36385864
rs556587459
G
T
75905.29
1
36385866
.
C
A
47449.02
1
36385870
.
G
T,A
44208.66
1
36385873
rs182679048
G
A
149096.98
1
36385879
.
G
A
2907.92
1
36385880
rs568514452
C
T
26321.07
1
36385882
rs187411212
G
T,A,GCCT
62374.16
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
36385860
rs561721499
AGCCGCCGCC
A
.
1
36385860
rs540342265
AGCCGCCGCCGCC
A,AGCC,AGCCGCCGCCGCCGCC
.
1
36385864
rs556587459
G
T
.
1
36385868
.
C
A
.
1
36385871
.
CCG
CCA
.
1
36385873
rs182679048
G
A
.
1
36385876
.
G
GC
.
1
36385879
.
G
T
.
1
36385879
.
GCCG
GTCG
.
1
36385880
rs568514452
C
T
.
1
36385881
.
C
CG
.
1
36385882
rs187411212
G
T
.