| General information of RDP00424 | |
|---|---|
| Gene Symbol: | FZD6 |
| RefSeq ID: | NM_001164615 |
| Repeat coordinate: | chr8:103298773-103298809 (+) |
| Repeat size: | 12 |
| Repeat region: | intron |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.154; 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 |
| Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3) | 603409 | 8q22.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 | NM_001164615 | 0.70 | 1 | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
103298733
.
GGGCGGCGCAGCGCAGGCGGTGCCCGGGCGCAGGGCCAGTCCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCGAGCCCGGACCTGCCCGCCCGACCT
G
10895.95
8
103298772
.
TCCCGCCGCCGCC
TGCCGCCGCC,T,TGCCCGCCGCCGCC,TGCC,TCCGCCGCCGCC
312430.41
8
103298773
rs539743508
CCCGCCGCCGCCG
C,CCCGCCGCCG,CCCG,CCCGCCGCCGCCGCCG,CCCGCCG,CCCGCCGCCGCCGCCGCCGCCG
11041912.25
8
103298775
.
CG
C
8177790.76
8
103298776
.
GCCGCCGCCGCC
G
8191066.48
8
103298777
.
CCG
C
4615915.56
8
103298783
.
C
A
3508226.53
8
103298796
.
C
CGCT
4412.89
8
103298799
.
C
T
3327.52
8
103298803
.
G
A,GCCT
3516.28
8
103298808
.
CGCGAGCCCGGACCTGCCCGCCCGACCTGGCG
C,CAGCCCGGACCTGCCCGCCCGACCTGGCG
5021.98
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
103298772
.
TCCCGCCGCCGCCGCCGCCGCCGCC
TCCCGCCGCCGCC
.
8
103298772
.
TCCCGCCGCCGCC
TCCCGCCGCC,T
.
8
103298773
.
CCCGCCGCCGCCG
C
.
8
103298773
.
CCCG
CCCGCCG,CCCGCCGCCG,C
.
8
103298773
.
CCCGCCG
CCCG,CCCGCCGCCG,C
.
8
103298773
.
CCCGCCGCCG
CCCG,CCCGCCG,CCCGCCGCCGCCG,C
.
8
103298773
rs539743508
CCCGCCGCCGCCG
CCCG,CCCGCCG,CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,C
.
8
103298773
.
CCCGCCGCCGCCGCCGCCGCCG
C
.
8
103298774
.
CCGCCGCCGCCGCC
CC
.
8
103298788
.
G
C
.
8
103298794
.
G
A
.
8
103298796
.
CGCCG
CGCCGC
.
8
103298797
.
G
A
.