| General information of RDP00131 | |
|---|---|
| Gene Symbol: | TLK2 |
| RefSeq ID: | NM_001284333 |
| Repeat coordinate: | chr17:62479269-62479287 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.999; 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 |
| Mental retardation, autosomal dominant 57, 618050 (3) | 608439 | 17q23.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 | NM_001284333 | 0.60 | 2 | 16 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
62479268
rs768508482
AGCGGCGGCG
AGCGGCGGCGGCGGCG,AGCG,AGCGGCGGCGGCGGCGGCG,A,AGCGGCGGCGGCG
17304.60
17
62479270
.
C
G
4354.35
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
62479268
.
AGCG
A
.
17
62479273
.
C
CG
.