General information of RDP00292
Gene Symbol:SHCBP1L
RefSeq ID:NM_030933
Repeat coordinate:chr1:182952865-182952883 (-)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.052; 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 ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
182952865
.
TCCG
T
.
1
182952868
rs13373887
G
T
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
182952865
rs780795623
TCCGCCGCCG
TCCGCCG,TCCG,TCCGCCGCCGCCGCCG,TCCGCCGCCGCCG,TCCGCCGCCGCCGCCGCCG,T
712791.13
1
182952868
rs13373887
G
T
1855441.66
1
182952869
rs778724547
C
T
33630.77
1
182952871
.
G
T
23687.96
1
182952875
.
C
T
47.11
1
182952877
rs748096896
G
A
11609.48
1
182952880
rs772037310
G
A
2878.87
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
182952865
rs780795623
TCCGCCGCCG
TCCGCCG,TCCGCCGCCGCCGCCG,T,TCCGCCGCCGCCG
156910.21
1
182952868
rs13373887
G
T
556850.29
1
182952870
.
C
T
4191.03
1
182952873
.
C
T
3074.05
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
182952865
rs750758892
TCCG
TCCGCCGCCG,T
.
1
182952865
rs747708113
TCCGCCG
T
.
1
182952865
rs769207345
TCCGCCGCCG
TCCG,TCCGCCG,TCCGCCGCCGCCG,TCCGCCGCCGCCGCCG,TCCGCCGCCGCCGCCGCCG,T
.
1
182952868
rs13373887
G
T
.
1
182952869
rs778724547
C
T
.
1
182952871
.
GCCG
TCTC
.
1
182952871
.
GCCGCCG
TCTC
.
1
182952872
.
CCGCCGCCG
CCGCCTCTC
.
1
182952874
.
GCCG
TCTC
.
1
182952876
.
C
A
.
1
182952877
rs748096896
G
A,C
.
1
182952877
.
GCCG
TCTC
.
1
182952879
.
C
CG
.
1
182952880
rs772037310
G
A
.
1
182952882
.
C
CG
.