General information of RDP00344
Gene Symbol:FAM117B
RefSeq ID:NM_173511
Repeat coordinate:chr2:202635357-202635375 (+)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.846; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:GGGGG
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
202635356
.
AGCG
A
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
202635356
rs541728010
AGCGGCGGCG
AGCGGCG,AGCG,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,A,AGAGGCGGCGGCGGCG
116831.32
2
202635359
.
G
A
61877.68
2
202635361
rs765961957
C
T
9232.47
2
202635362
.
G
T
3087.73
2
202635363
.
G
A
2559.66
2
202635365
.
G
A
1949.92
2
202635367
.
C
T
116.62
2
202635370
.
C
T
96.60
2
202635371
.
G
C
123.25
2
202635373
.
C
T
228.77
2
202635375
rs561348639
GCAA
ACAA,G,GCAACAA
45248.53
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
202635356
rs541728010
AGCGGCGGCG
AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,AGCGGCG,AGCG,A
34055.69
2
202635359
.
G
A
7001.93
2
202635361
rs765961957
C
T
7724.17
2
202635373
.
CGGCAACAACAACGGTGGCTGCTGTGGT
C
501.53
2
202635375
rs561348639
GCAA
ACAA,G
30206.23
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
202635356
rs780598073
AGCG
A
.
2
202635356
rs769021490
AGCGGCGGCG
A
.
2
202635361
rs765961957
C
T
.
2
202635375
rs561348639
G
A
.
2
202635375
.
GCAA
ATAA
.
2
202635375
.
G
GC
.