General information of RDP00125
Gene Symbol:PSKH1
RefSeq ID:NM_006742
Repeat coordinate:chr16:67893279-67893303 (+)
Repeat size:8
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.342; 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 gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
67893277
rs541670355
TGGCGGCGGCGGC
TGGCGGCGGCGGCGGC,TGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC,TGGCGGC
3288077.60
16
67893289
rs7196964
C
T,CGGA
638171.37
16
67893299
.
G
GGCGGCC,GGCGGCGGCC,C
2476.49
16
67893302
.
G
GGCC
1372.13
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
67893277
.
TGGC
T,TGGCGGC
.
16
67893277
.
TGGCGGC
T
.
16
67893277
.
TGGCGGCGGC
T
.
16
67893277
rs527336120
TGGCGGCGGCGGC
T,TGGCGGCGGCGGT
.
16
67893289
rs7196964
C
CG,G,T
.
16
67893293
.
G
C
.
16
67893296
.
G
T
.
16
67893297
.
GC
GGG
.
16
67893298
rs548714014
C
CGCGGCGGCG
.
16
67893299
.
G
C
.
16
67893300
.
G
GC
.