General information of RDP00376
Gene Symbol:SNTB1
RefSeq ID:NM_021021
Repeat coordinate:chr8:120811815-120811833 (-)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.505; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:AAAAA
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
120811814
rs547154887
AGCCGCCGCC
AGCCGCC,A,AGCC,AGCCGCCGCCGCC,AGCCGCCGCCGCCGCC
144766.54
8
120811820
rs757400654
C
T
3949.43
8
120811823
rs190526297
C
A
709200.44
8
120811825
rs542863755
C
T
7486.64
8
120811826
.
C
A
139.10
8
120811827
rs770137703
G
A
97.15
8
120811830
rs775980729
G
A
197.75
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
120811814
rs547154887
AGCCGCCGCC
AGCCGCCGCCGCC,AGCCGCC,A,AGCCGCCGCCGCCGCC
119240.04
8
120811817
rs747257895
C
T,A
16196.87
8
120811818
.
G
T
2609.41
8
120811823
rs190526297
C
A
1094083.94
8
120811825
rs542863755
C
T
50459.17
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
120811814
rs778730067
AGCC
A
.
8
120811814
rs772114238
AGCCGCC
A
.
8
120811814
rs768410436
AGCCGCCGCC
A
.
8
120811817
rs747257895
C
T
.
8
120811818
.
G
A
.
8
120811818
.
G
GA
.
8
120811820
rs757400654
C
T
.
8
120811821
.
GCCGCC
GCA,GCAGCC
.
8
120811823
rs190526297
C
A
.
8
120811825
rs542863755
C
T
.
8
120811827
rs770137703
G
T
.
8
120811827
.
G
GC
.
8
120811828
rs13257442
C
A
.
8
120811829
.
CG
TA
.
8
120811829
.
C
CG
.
8
120811830
rs775980729
G
A
.
8
120811830
.
G
GC
.
8
120811831
.
C
GC,T
.
8
120811832
.
C
CG
.