| General information of RDP00420 | |
|---|---|
| Gene Symbol: | CHD3 |
| RefSeq ID: | NM_001005271 |
| Repeat coordinate: | chr17:7885307-7885343 (+) |
| Repeat size: | 12 |
| Repeat region: | intron |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.016; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| SNIJDERS BLOK-CAMPEAU SYNDROME | NM_001005271 | 0.60 | 2 | 18 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
7885301
.
CCCTCCCCCGCCGCCG
C
1703.02
17
7885310
.
G
GCCGCACCCCTCCC,GCCGCCGCCGCCC
1443660.16
17
7885313
.
G
GCACCCCTCCC,GCACC,GCACCCCT
1101085.21
17
7885314
.
C
CA
611569.46
17
7885316
.
G
T,C
615889.42
17
7885319
.
GCCGCCGCCGCCGCCGCCGCCGCCGCCA
CCCGCCGCCGCCGCCGCCGCCGCCGCCA,G,TCCGCCGCCGCCGCCGCCGCCGCCGCCA
420118.66
17
7885320
.
C
CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGA
71733.45
17
7885322
.
G
C
72097.34
17
7885325
.
G
C
29804.55
17
7885327
.
C
T
13085.72
17
7885328
.
GCCGCCGCCGCCGCCGCCA
G
14940.75
17
7885331
.
GCCGCCGCCGCCGCCA
G
9495.94
17
7885337
.
G
GCCGCCGCCA
9997.18
17
7885340
.
GCCGCCA
G,GCCGCCACCGCCA,ACCGCCA
4240.20
17
7885343
.
G
GCCA
4478.75
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
7885307
.
CCCG
C
.
17
7885307
.
CCCGCCG
C
.
17
7885314
.
C
CA
.
17
7885315
.
C
T
.
17
7885324
.
C
T
.