| General information of RDP00074 | |
|---|---|
| Gene Symbol: | FAR1 |
| RefSeq ID: | NM_032228 |
| Repeat coordinate: | chr11:13668733-13668751 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.997; 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 |
| Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3) | 616107 | 11p15.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | NM_032228 | 0.70 | 1 | 3 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
13668733
rs534044328
ACGG
A,ACGGCGG,ACGGCGGCGG,ACGGCGGCGGCGG,GCGG
122402.12
11
13668740
.
C
G,T
947.43
11
13668747
.
G
T
514.47
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
13668733
rs770213765
ACGG
A
.
11
13668743
rs545058316
C
T
.
11
13668751
rs563567049
G
C
.
11
13668751
.
GC
CA
.
11
13668751
.
GCGCAGCTATTG
CAGCAGCTATTG,GCGCAGCAGCTATTG,GCGCAGCTATTT,TCGCAGCTATTG
.