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_name | RefSeq | Score | NofPmids | NofSnps | Source |
Liver Cirrhosis, Experimental | NR_073128 | 0.30 | 1 | 0 | CTD_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
.