| General information of RDP00464 | |
|---|---|
| Gene Symbol: | ZNF423 |
| RefSeq ID: | NM_001271620 |
| Repeat coordinate: | chr16:49855511-49855535 (-) |
| Repeat size: | 8 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.010; 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 |
| Nephronophthisis 14, 614844 (3) | 604557 | 16q12.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Ciliopathies | NM_001271620 | 0.33 | 0 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
49855504
.
TACCCCCTCC
T
780.31
16
49855511
rs545977248
TCCGCCGCCG
TCCG,TCCGCCGCCGCCG,TCCGCCGCCGCCGCCG,TCCGCCGCCGCCGCCGCCG,TCCGCCG,T
10627930.50
16
49855512
.
CCGCCG
C
3118850.59
16
49855516
.
C
CGCA
3039528.39
16
49855517
.
G
GCCGCCGCCGCCGCCGCCT
3037608.77
16
49855522
.
C
CGCCGCA
3664.93
16
49855526
.
G
GCCGCCGCCGCCT
10705.10
16
49855532
rs181134480
G
GCCGCCGCCT,GCCGCCGCCGCCT
4474.35
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
49855508
.
CCCTCCGCCGCCGCCGCCGCCG
CCCTCCGCCGCCGCCG
.
16
49855511
.
TCCGCCG
T
.
16
49855511
.
TCCGCCGCC
TCC
.
16
49855511
.
TCCG
T
.
16
49855511
.
TCCGCCG
TCCGCCCCCT,TCCGCCGCCG,TCCGCCGCCGCCG,T
.
16
49855512
.
CCGCCGCC
CC
.
16
49855512
.
CCGCCGCCGCC
CCGCC
.
16
49855512
.
CCGCCGCCGCCG
CCGCCG
.
16
49855512
.
CCGCCGCCGCCGCCGC
CCGCCGCCGC,CCGCCGCCGCCGC
.
16
49855512
.
CCGCCGCCGCCGCCGCCGCCGCCGC
CCGCCGCCGCCGCCGCCGC
.
16
49855514
.
G
A
.
16
49855532
rs181134480
G
T
.
16
49855533
.
C
G
.
16
49855535
.
GC
CT
.