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_nameRefSeqScoreNofPmidsNofSnpsSource
Hereditary Diffuse Gastric CancerNM_0048190.3010CTD_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
.