| General information of RDP00210 | |
|---|---|
| Gene Symbol: | CDK6 |
| RefSeq ID: | NM_001145306 |
| Repeat coordinate: | chr7:92833566-92833584 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.165; 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 |
| Microcephaly 12, primary, autosomal recessive, 616080 (3) | 603368 | 7q21.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE | NM_001145306 | 0.70 | 1 | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
92833564
rs552308183
TCGCCGC
TCGCCGCCGC,TCGC,TCGCCGCCGCCGC,T
71523.70
7
92833570
.
C
T
2081.98
7
92833572
.
G
C
604.40
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
92833564
.
TCGC
T
.
7
92833576
rs549605897
C
T
.
7
92833580
rs370262867
C
T
.