General information of RDP00091
Gene Symbol:KATNAL1
RefSeq ID:NM_032116
Repeat coordinate:chr13:30307395-30307416 (-)
Repeat size:7
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.024; 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
13
30307394
rs765633852
GGCCGCCGCC
GGCCGCCGCCGCC,GGCCGCCGCCGCCGCCGCCGCC,GGCCGCC,GGCCGCCGCCGCCGCC,GGCC,G
3692142.76
13
30307405
.
C
A
242.48
13
30307409
.
C
T
5062.73
13
30307413
.
G
A
444.48
13
30307415
.
C
T
10686.51
13
30307416
.
G
GCCC,C,GCCA
6453.81
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
30307394
rs542904058
GGCC
G
.
13
30307394
.
GGCCGCC
G
.
13
30307394
rs540758502
GGCCGCCGCC
G,GGCCGCC,GGCCGCCGCCGCC
.
13
30307409
.
C
T
.
13
30307415
.
C
CG,T
.
13
30307415
.
C
CG
.