| General information of RDP00227 | |
|---|---|
| Gene Symbol: | LRP12 |
| RefSeq ID: | NM_001135703 |
| Repeat coordinate: | chr8:104588972-104588999 (-) |
| Repeat size: | 9 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.866; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Muscular Dystrophy, Oculopharyngeal | NM_001135703 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
104588961
rs759718103
ACGACGCCGACGCCGCCGCCGCCGCCGC
ACGACGCCGCCGCCGCCGCCGC,ACGACGCCGACGCCGACGCCGCCGCCGCCGCCGC,ACGCCGACGCCGACGCCGCCGCCGCCGCCGC,A,ACGACGCCGACGCCGACGCCGACGCCGCCGCCGCCGCCGC
1124334.08
8
104588964
rs548846399
ACGCCGACGCCGCCGCCGC
ACGCCGCCGCCGCCGACGCCGCCGCCGC,ACGCCGCCGCCGACGCCGCCGCCGC,A,ACGCCGCCGACGCCGCCGCCGC,ACGCCGC
3318549.48
8
104588970
rs188974664
ACGCCGC
ACGCCGCCGCCGCCGC,ACGCCGCCGCCGCCGCCGCCGC,CCGCCGC,ACGCCGCCGCCGCCGCCGC,A
9168543.34
8
104588973
rs543283170
C
CCGA
1289160.24
8
104588975
.
G
A
978333.95
8
104588976
rs560767533
C
A,CCGACGCCGA
983920.51
8
104588977
.
CGCCGCCGCCGCCGCCGCCGCCGAGCCACCGGCTGCTCCCTGCGCTCTCCGCGGCTGCGGGAGGGGGAAGGGAGGG
C
522152.96
8
104588978
rs528078067
G
A
521513.16
8
104588979
.
C
A
521512.26
8
104588980
.
CGCCGCCGCCGCCGCCGCCGAGCCACCGGCTGCTCCCTGCGCTCTCCGCGGCTGCGGGAGGGGGAAGGGAGGG
C
480130.48
8
104588982
.
CCGCCGCCGCCGCCGCCGA
CCGCCGCCGACGCCGCCGCCGCCGCCGA,C,ACGCCGCCGCCGCCGCCGA
533714.39
8
104588986
.
CGCCGCCGCCGCCGAGCCACCGGCTGCTCCCTGCGCTCTCCGCGGCTGCGGGAGGGGGAAGGGAGGG
C
701.94
8
104588987
.
G
A
701.80
8
104588988
.
C
A
721.93
8
104588994
.
CCGCCGA
C
796.60
8
104588995
.
C
CGCCGCCGCA
1507.77
8
104588996
.
G
GCCGCCGCCC
1735.62
8
104588997
.
CCGA
C,GCGA
1677.84
8
104588998
rs568538639
CGA
C,CGCCGCCGCTGA
11046.14
8
104588999
.
G
GCCGC,GC,GCCA,A
8581.84
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
104588961
rs759718103
ACGACGCCGACGCCGCCGC
A
.
8
104588962
.
CGACGCCGACGCCGCCGCCGC
CGA
.
8
104588964
.
ACGCCGACGC
ACGCCGC
.
8
104588964
.
ACGCCGACGCCGCCGC
A
.
8
104588964
.
ACGCCGACGCCGCCGCCGC
A
.
8
104588964
.
ACGCCGACGCCGC
ACGCCGCCGC,A
.
8
104588964
.
ACGCCGACGCCGCCGC
ACGCCGCCGCCGC,A
.
8
104588964
.
ACGCCGACGCCGCCGCCGC
ACGCCGACGCCGCCGCCGCCGCCGCCGC,ACGCCGCCGACGCCGCCGCCGC,ACGCCGCCGCCGCCGC,A
.
8
104588970
.
ACGC
A,C
.
8
104588970
.
ACGCCGC
A,CCGC
.
8
104588970
.
ACGC
ACGCCGCCGCCGC,A
.
8
104588970
.
ACGCCGC
ACGCCGCCGCCGCCGC,A
.
8
104588970
.
ACGCCGCCGC
A
.
8
104588970
.
ACGCCGCCGCCGC
A
.
8
104588973
rs543283170
C
A
.
8
104588976
rs560767533
C
A
.
8
104588978
rs528078067
G
T
.
8
104588982
.
C
A
.
8
104588982
.
C
CCGCCGCCGA
.
8
104588984
.
GCCGCCG
C
.
8
104588991
rs546235863
C
A
.
8
104588994
.
C
G
.
8
104588997
.
C
A
.
8
104588998
.
C
G
.
8
104588998
rs568538639
CGA
C
.
8
104588999
.
G
GC
.