| General information of RDP00102 | |
|---|---|
| Gene Symbol: | PCNX1 |
| RefSeq ID: | NM_001308160 |
| Repeat coordinate: | chr14:70907808-70907826 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.435; 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 ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
70907808
.
ACGG
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
70907800
.
GGGCGGGGACGGCGGCGGCGGCGGCGGCGACGGC
G
1201.71
14
70907806
rs755545130
GGACGGCGGCGGCGGCGGCGGC
G
17183.51
14
70907808
rs3094890
ACGGCGGCGGCGGCGG
ACGGCGGCGGCGG,ACGGCGGCGGCGGCGGCGG,ACGG,ACGGCGGCGG,A
129173.76
14
70907811
rs779203779
GCGGCGGCGGCGGCGGCGA
G
72560
14
70907815
.
C
T
10646.18
14
70907817
rs746889498
GCGGCGGCGGCGA
G
78976.40
14
70907820
.
GCGGCGGCGA
G,GCGGCGGCGACGGCGGCGA
95938.92
14
70907821
.
C
T
57467.49
14
70907826
rs556580107
GCGA
G
57582.26
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
70907806
rs755545130
GGACGGCGGCGGCGGCGGCGGC
G
837.71
14
70907808
rs3094890
ACGGCGGCGGCGG
ACGGCGGCGGCGGCGG,ACGGCGGCGG,ACGGCGG,A,ACGGCGGCGGCGGCGGCGG
124321.55
14
70907811
rs779203779
G
GCGGCGC,GCGGCGGCGGCGGCGGCGA
21975.81
14
70907815
.
C
T
3698.36
14
70907817
rs746889498
GCGGCGGCGGCGA
G
43641.88
14
70907818
rs752701953
C
A
43685.21
14
70907820
.
G
GCGGCGGCGA
44496.05
14
70907823
.
G
A
41852.15
14
70907826
rs556580107
G
A
41615.53
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
70907806
rs755545130
GGACGGCGGCGGCGGCGGCGGC
G
.
14
70907808
rs756470182
ACGG
A
.
14
70907808
rs778077583
ACGGCGG
A
.
14
70907808
rs781384591
ACGGCGGCGGCGG
A
.
14
70907808
rs749537800
ACGGCGGCGGCGGCGG
A
.
14
70907808
rs771123332
ACGGCGGCGGCGGCGGCGGCGACGG
ACGGCGACGG,ACGGCGGCGACGG,ACGGCGGCGGCGGCGACGG,ACGGCGGCGGCGGCGGCGACGG,ACGGCGGCGGCGGCGGCGGCGGCGACGG,A
.
14
70907811
.
G
GCGGCGC
.
14
70907811
rs779203779
GCGGCGGCGGCGGCGGCGA
G
.
14
70907817
rs746889498
GCGGCGGCGGCGA
G
.
14
70907818
rs752701953
C
A
.
14
70907826
rs556580107
G
GCA
.