| General information of RDP00432 | |
|---|---|
| Gene Symbol: | POMGNT1 |
| RefSeq ID: | NM_001243766 |
| Repeat coordinate: | chr1:46198461-46198482 (-) |
| Repeat size: | 7 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.571; 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 |
| Retinitis pigmentosa 76, 617123 (3) | 606822 | 1p34.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| RETINITIS PIGMENTOSA 76 | NM_001243766 | 0.70 | 4 | 13 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
46198461
rs544398806
TCCGCCGCCGCCG
TCCGCCGCCGCCGCCG,TCCG,TCCGCCGCCGCCGCCGCCG,TCCGCCGCCG,T,TCCGCCGCCGCCGCCGCCGCCG
105472.48
1
46198467
.
G
T
1969.16
1
46198470
.
G
T
2760
1
46198475
.
C
CGCCGCCGCT
521.91
1
46198478
.
CGCCGCT
C
670.88
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
46198472
.
C
CG
.
1
46198473
rs113316827
G
A,C
.