| General information of RDP00230 | |
|---|---|
| Gene Symbol: | CHD7 |
| RefSeq ID: | NM_017780 |
| Repeat coordinate: | chr8:60678792-60678810 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.150; 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 |
| Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3) | 608892 | 8q12.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | NM_017780 | 0.60 | 5 | 25 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
60678791
rs71513464
AGCG
AGCGGCG,GGCG,A,AGCGGCGGCG,AGCGGCGGCGGCGGCGGCGGCAGCGGCG
479791.67
8
60678794
rs867014051
G
A,GGCGGCGGCGGCGGCA,GGCGGCA
5872.53
8
60678797
.
G
GGCGGCGGCGGCA
2725.83
8
60678800
.
G
GGCGGCGGCA
1238.48
8
60678802
.
C
T
685.49
8
60678803
.
G
A
855.53
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
60678799
.
C
G
.