| General information of RDP00200 | |
|---|---|
| Gene Symbol: | UBE2B |
| RefSeq ID: | NM_003337 |
| Repeat coordinate: | chr5:134371473-134371503 (+) |
| Repeat size: | 10 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.367; 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 OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Male infertility (1) | 179095 | 5q31.1 |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
134371473
.
TCGG
TCGGCGG,T
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
134371473
rs532957463
TCGGCGGCGGCGGCGGCGG
TCGGCGGCGGCGGCGGCGGCGG,TCGGCGGCGGCGGCGG,TCGGCGGCGGCGGCGGCGGCGGCGG,TCGGCGGCGG,TCGGCGGCGGCGGCGGCGGCGGCGGCGG,T
1535452.68
5
134371474
rs34835090
C
A,CGGCGGA
648283.02
5
134371475
.
G
C
626896.03
5
134371476
.
G
T
626566.79
5
134371480
rs866644755
C
G
68239.67
5
134371500
.
G
GCGGCGGCGA,GCGGCGA
1032.31
5
134371501
rs34553375
C
T,CGGT,CGGCGAT,CGGCGGCGGT,CGGCGGCGAT
221989.22
5
134371503
.
G
GCGA,GCGGCGA
1414.10
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
134371473
rs376526735
TCGG
TCGGCGG,T
.
5
134371473
.
TCGGCGG
T
.
5
134371473
.
TCGGCGGCGG
TCGGCGG,T
.
5
134371473
.
TCGGCGGCGGCGG
T
.
5
134371473
.
TCGGCGGCGGCGGCGGCGG
T
.
5
134371474
rs34835090
C
A
.
5
134371477
.
CGG
CGGC
.
5
134371478
.
GGCGGC
GGT
.
5
134371483
.
C
CG
.
5
134371489
.
CGGCGGCGGCGGC
CGGCGGCGGCGGT
.
5
134371493
.
GGCGGCGGC
GGCGGCGGT
.
5
134371495
.
CGGCGGC
CGGCGGT
.
5
134371495
.
C
CGGG
.
5
134371496
.
GGCGGC
GGCGGT
.
5
134371498
.
CGGC
CGGT
.
5
134371501
rs34553375
C
T
.