General information of RDP00627
Gene Symbol:KTN1
RefSeq ID:NR_073128
Repeat coordinate:chr14:55580254-55580278 (+)
Repeat size:8
Repeat region:exon
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.802; 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 Cirrhosis, ExperimentalNR_0731280.3010CTD_human
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
55580253
.
TGCGGCG
T
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
55580253
rs534439479
TGCGGCGGCG
TGCG,TGCGGCG,TGCGGCGGCGGCG,T,TGCGGCGGCGGCGGCGGCGGCG,TGCGGCGGCGGCGGCGGCGGCGGCG
4750139.83
14
55580255
.
C
T
4349749.82
14
55580259
rs540491158
G
A
4319645.90
14
55580270
.
C
T
20493.33
14
55580278
rs562026720
G
A,GCGC
34880.67
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
55580251
.
ACTGCGGCG
ACT
.
14
55580253
.
TGCGGCG
T
.
14
55580253
.
TGCG
T
.
14
55580253
rs534439479
TGCGGCG
T,TGCG,TGCGGCGGCG,TGCGGCGGCGGCG,TGCGGCGGCGGCGGCGGCG
.
14
55580253
.
TGCGGCGGCG
T,TGCG
.
14
55580255
.
CGGCGGCGGCGGCGGCGGCGGCGGCGCCTCGGAGC
CGGCGGCGGCGGCGGCGGCGCCTCGGAGC
.
14
55580259
rs540491158
G
A
.
14
55580259
.
GGCGGC
GGCGGT
.
14
55580264
.
CGGCGGC
T
.
14
55580268
.
GGCGGC
G
.
14
55580270
.
C
T
.
14
55580278
rs562026720
G
A
.
14
55580278
.
G
GCGC
.