| General information of RDP00045 | |
|---|---|
| Gene Symbol: | LRP8 |
| RefSeq ID: | NM_001018054 |
| Repeat coordinate: | chr1:53328016-53328037 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.002; 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 |
| {Myocardial infarction, susceptibility to}, 608446 (3) | 602600 | 1p32.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Major Depressive Disorder | NM_001018054 | 0.31 | 1 | 0 | PSYGENET |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
53328016
.
CCCG
CCCGCCGCCG,C
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
53328016
rs528801146
CCCGCCGCCG
CCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCG
893656.04
1
53328018
.
CG
C
552965.98
1
53328020
.
CCG
C
19115.22
1
53328031
.
G
A
573.36
1
53328036
.
CGCT
C
16279.67
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
53328016
rs528801146
CCCG
CCCGCCGCCG,C
.
1
53328016
.
CCCGCCGCCG
C
.
1
53328036
.
CGCT
C
.
1
53328037
.
G
C
.