General information of RDP00068
Gene Symbol:GRK5
RefSeq ID:NM_005308
Repeat coordinate:chr10:119207706-119207733 (+)
Repeat size:9
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.886; 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
Liver DysfunctionNM_0053080.3010CTD_human
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
119207705
.
AGCGGCG
A
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
119207705
rs748884473
AGCGGCGGCGGCGGCGGCG
AGCGGCGGCGGCG,AGCGGCGGCG,AGCGGCGGCGGCGGCG,AGCG,A,AGCGGCGGCGGCGGCGGCGGCG
13011761.57
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
119207705
.
AGCG
A
.
10
119207705
.
AGCGGCG
A
.
10
119207705
rs748884473
AGCG
A
.
10
119207705
rs76422636
AGCGGCG
A,AGCG
.
10
119207705
.
AGCGGCGGCG
A,AGCG
.
10
119207706
.
GCGGCGG
G
.
10
119207706
.
GCGGCGGC
GC
.
10
119207706
.
GCGGCGGCGG
GCGG
.
10
119207706
.
GCGGCGGCGGC
GCGGC
.
10
119207706
.
GCGGCGGCGGCG
GCGGCG
.
10
119207706
.
GCGGCGGCGGCGG
GCGGCGG
.
10
119207706
.
GCGGCGGCGGCGGCGG
GCGGCGGCGG
.
10
119207706
.
GCGGCGGCGGCGGCGGCGGCGGCGG
GCGGCGGCGGCGGCGGCGG
.
10
119207706
.
GCGGCGGCGGCGGCGGCGGCGGCGGCG
GCGGCGGCGGCGGCGGCGGCG
.
10
119207708
rs28399015
G
A
.
10
119207712
.
G
GA,GGA
.
10
119207713
.
C
A
.
10
119207713
.
CGG
GA
.
10
119207717
.
G
A
.
10
119207722
.
C
A,G
.