General information of RDP00318
Gene Symbol:GSPT1
RefSeq ID:NM_001130006
Repeat coordinate:chr16:11915673-11915703 (-)
Repeat size:10
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.990; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:GGGGGGGGG
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
11915673
~rs71408216
CCCGCCGCCG
C,CCCGCCG,CCCGCCGCCGCCG
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
11915673
rs71408216
CCCGCCGCCGCCG
CCCG,CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCG,CCCGCCGCCGCCGCCGCCG,C
11493194.76
16
11915682
.
G
GCCA
2520115.81
16
11915683
rs776178220
C
T,CCGA
385530.50
16
11915685
.
G
GCCA
377751.71
16
11915688
.
G
A
24357.91
16
11915694
rs761093759
G
A,GCCA
1517.27
16
11915700
.
G
A
143.91
16
11915702
rs764420637
C
CGCCGCT,T,CGCCACT
2920.36
16
11915703
.
G
A
298.73
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
11915673
rs71408216
CCCGCCGCCG
CCCGCCGCCGCCG,C,CCCGCCG,CCCGCCGCCGCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG
3826144.17
16
11915674
.
CCG
C
858396.52
16
11915678
.
C
T
775671.98
16
11915679
.
G
A
772552.21
16
11915681
.
C
T
761442.26
16
11915684
.
C
T
57289.59
16
11915685
.
G
C
57205.47
16
11915689
.
C
CCGT
849.18
16
11915694
rs761093759
G
A,GCCA
1756.82
16
11915702
rs764420637
C
CGCCGCT
195.51
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
11915673
rs774581447
CCCG
C
.
16
11915673
rs772730858
CCCGCCG
C
.
16
11915673
rs749531224
CCCGCCGCCG
CCCG,CCCGCCG,CCCGCCGCCGCCG,CCCGCCGCCGCCGCCG,C
.
16
11915678
.
C
T
.
16
11915679
.
GCC
GCCG
.
16
11915682
.
G
GC
.
16
11915683
rs776178220
C
CCGA
.
16
11915685
.
GCCGCCGCCGCCG
GGCCGCCGCCGCCG
.
16
11915691
.
G
C
.
16
11915694
rs750409024
G
A
.
16
11915694
rs761093759
G
GCCA
.
16
11915702
rs764420637
C
CGCCACT
.