| General information of RDP00193 | |
|---|---|
| Gene Symbol: | FAM193B |
| RefSeq ID: | NM_001190946 |
| Repeat coordinate: | chr5:177554491-177554530 (-) |
| Repeat size: | 13 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.793; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| 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
5
177554489
rs561538268
ACGCCGC
ACGCCGCGCCGC,ACGCCGCGCCGCCGCCGCCGCCGC,A,ACGCCGCGCCGCCGCCGC,ACGCCGCGCCGCCGC,ACGCCGCGCCGCCGCCGCCGC
110464.93
5
177554492
rs202094018
C
CCG
25769.61
5
177554494
rs368006729
GCCGCCGCCGCCGCCGC
GCGCCGCCGCCGC,GCGCCGCCGCCGCCGC,GCGCCGCCGC,GCGCCGC,G
380520.70
5
177554503
.
G
GCCGCCGCCA
15075.08
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
177554492
rs202094018
C
CCG,CCGCGCCG
783428.86
5
177554494
rs368006729
GCCGCCGCCGCCGC
GCGCCGCCGCCGC,GCGCCGCCGC,G,GCGC,GCGCCGC
4622613.99
5
177554495
.
C
CG,CGG
4521086.40
5
177554496
.
C
CCGCCGCCGCA
817383.72
5
177554498
.
C
CCGCCGCCGA
737391.64
5
177554502
.
C
CGCACTA
258009.21
5
177554503
.
G
A
259449.32
5
177554504
.
C
CA
257937.70
5
177554509
.
G
A
37681.69
5
177554515
.
G
C
7481.79
5
177554523
.
CGCCGCCGCT
AGCCGCCGCT,C
1252.88
5
177554526
.
C
CGCCGCCGCCGCCGCG
2197.47
5
177554528
.
C
CCG
1921.59
5
177554529
.
C
T
1340.59
5
177554530
rs548967721
GCTA
G,TCTA
3347.15
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
177554489
.
ACGCCGC
ACGCCG,A
.
5
177554492
.
CCGC
CCG
.
5
177554492
rs202094018
C
CCG
.
5
177554494
.
G
C
.
5
177554494
.
GC
CG,G
.
5
177554494
rs368006729
GC
GCGG,G,GG
.
5
177554494
rs749807781
GCCGC
GCGC,G
.
5
177554494
rs774897418
GCCGCCGC
GCGCCGC,G
.
5
177554494
rs769005199
GCCGCCGCCGC
GCGC,GCGCCGC,GCGCCGCCGC,G
.
5
177554494
.
GCCGCCGCCGCCGC
G
.
5
177554494
.
GCCGCCGCCGCCGCCGCCGC
G
.
5
177554496
.
CG
GC
.
5
177554497
.
G
C
.
5
177554500
rs401796
G
A
.
5
177554500
.
G
GC
.
5
177554514
.
C
CG
.
5
177554518
.
G
A
.
5
177554525
.
C
T
.
5
177554530
rs548967721
G
T
.