General information of RDP00438
Gene Symbol:SRSF11
RefSeq ID:NM_001190987
Repeat coordinate:chr1:70221483-70221501 (+)
Repeat size:6
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.179; 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
1
70221483
rs532180578
ACGGCGGCGG
ACGGCGGCGGCGG,ACGGCGGCGGCGGCGG,A,ACGG,ACGGCGGCGGCGGCGGCGG
112098.44
1
70221488
rs531417781
G
T
5558.43
1
70221495
.
G
GCGGCGGCAT
8721.45
1
70221497
.
G
GGCGGCATCGGCA
541.46
1
70221499
.
C
T
242.46
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
70221483
rs755110443
ACGGCGGCGG
A
.
1
70221484
.
C
CG
.
1
70221484
.
C
CC,CGGC,CG
.
1
70221486
.
G
GC
.
1
70221486
.
G
GC
.
1
70221487
.
C
CG
.
1
70221488
rs531417781
G
T
.
1
70221489
.
G
GC
.
1
70221493
rs780679181
C
G,T
.
1
70221495
.
G
GC
.
1
70221496
.
C
G
.
1
70221499
.
C
CG
.
1
70221499
.
C
CG
.