General information of RDP00536
Gene Symbol:ATXN7L1
RefSeq ID:NM_001318229
Repeat coordinate:chr7:105639146-105639164 (-)
Repeat size:6
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.699; 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
7
105639145
.
TGCC
T,TGCCGCC,TGCCGCCGCC,TGCCGCCGCCGCC
9672.98
7
105639154
.
C
CGCCGCCGCCGCT
306.46
7
105639155
.
G
A
297.46
7
105639160
.
CGCCGCTGCCGCT
CGCCGCT,C
1655.12
7
105639163
.
C
CGCTGCCGCT
2163
7
105639164
.
G
T
2036.05
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
105639145
.
TGCC
T
.
7
105639145
.
TGCC
T
.
7
105639145
.
TGCCGCCGCC
T,TGCCGCC,TGCCGCTGCC
.
7
105639151
rs189080273
C
T
.
7
105639158
.
G
GC
.
7
105639160
.
C
CG
.