General information of RDP00145 | |
---|---|
Gene Symbol: | SYMPK |
RefSeq ID: | NM_004819 |
Repeat coordinate: | chr19:45863113-45863131 (-) |
Repeat size: | 6 |
Repeat region: | 5' UTR |
Repeat unit: | CGG |
Repeat conservation: | PhastCons_score: 0.521; 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 |
Hereditary Diffuse Gastric Cancer | NM_004819 | 0.30 | 1 | 0 | CTD_human |
Mapping repeat track to 1000 Genomes: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
45863113
.
TCCG
T
100
Mapping repeat track to gnomAD: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
45863113
rs151045853
TCCGCCGCCG
TCCGCCG,TCCGCCGCCGCCGCCG,T,TCCGCCGCCGCCG,TCCGCCGCCGCCGCCGCCG
2057071.30
19
45863115
rs573910817
C
T
2040752.68
19
45863122
.
G
A
5575.43
19
45863124
rs867086951
C
T
1257.96
19
45863131
rs7247360
G
A
164493.67
Mapping repeat track to Kaviar: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
45863113
.
TCCG
T
.
19
45863113
rs3840932
TCCG
TCCGCAGCCG,TCCGCCG,TCCGCCGCCG,T
.
19
45863114
rs758815366
C
A
.
19
45863115
rs573910817
C
T
.
19
45863116
.
G
T
.
19
45863117
rs542772618
C
T
.
19
45863124
.
C
T
.
19
45863127
rs562847849
C
T
.
19
45863127
.
C
CG
.
19
45863128
.
G
GC
.
19
45863130
.
C
CG
.
19
45863130
.
CGCC
C
.
19
45863131
rs7247360
G
A
.
19
45863131
.
G
GC
.