General information of RDP00343
Gene Symbol:HOXD8
RefSeq ID:NM_001199746
Repeat coordinate:chr2:176130418-176130436 (+)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.999; 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
2
176130417
.
TGCG
T
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
176130407
rs761329762
AGGCGGCGGCTGCGGCGGC
CGGCGGCGGCTGCGGCGGC,AGGCGGCGGCTGCGGCGGCGGCTGCGGCGGC,AGGCGGCTGCGGCGGC,A,AGGCGGCGGCGGCGGCGGCTGCGGCGGC,AGGCGGC
7804.31
2
176130417
rs560225489
TGCGGCGGCG
TGCGGCG,GGCGGCGGCG,TGCGGCGGCGGCG,TGCG,TGCGGCGGCGGCGGCG,T
1713445.96
2
176130420
.
G
T
1372398.22
2
176130421
.
G
A
49367.05
2
176130422
.
C
T
36951.34
2
176130423
rs577712646
G
T
42711.79
2
176130425
.
C
T
17355.68
2
176130426
.
G
A
15900.20
2
176130428
.
C
CG
474.03
2
176130429
.
GGC
G
620.31
2
176130431
.
C
CG,T
1751.12
2
176130433
.
G
A
269.42
2
176130434
rs758590291
C
T,CGGG
9501.30
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
176130407
rs761329762
AGGCGGCGGCTGCGGCGGC
CGGCGGCGGCTGCGGCGGC,AGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGC,AGGCGGC,A
4484.82
2
176130417
rs560225489
TGCGGCGGCG
T,TGCGGCG,TGCGGCGGCGGCGGCG,GGCGGCGGCG,TGCGGCGGCGGCG
132636.31
2
176130423
rs577712646
G
T
19967.55
2
176130431
.
C
T
568.57
2
176130434
rs758590291
C
CGGG
13213.53
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
176130417
.
TGCG
GGCG,T,TGCGGCG,TGCGGCGGCG
.
2
176130417
rs762106201
TGCG
T
.
2
176130417
.
TGCGGCG
T
.
2
176130423
rs577712646
G
T
.
2
176130434
rs758590291
C
CGGG
.