General information of RDP00146 | |
---|---|
Gene Symbol: | SYT3 |
RefSeq ID: | NM_001160328 |
Repeat coordinate: | chr19:50639813-50639831 (-) |
Repeat size: | 6 |
Repeat region: | 5' UTR |
Repeat unit: | CGG |
Repeat conservation: | PhastCons_score: 0.349; 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 |
Malignant neoplasm of breast | NM_001160328 | 0.30 | 0 | 0 | UNIPROT |
Mapping repeat track to gnomAD: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
50639794
rs550017093
AGCCGCCGCTGCCGCCGCTGCC
AGCCGCCGCTGCC,AGCCGCCGCTGCCGCCGCTGCCGCCGCTGCC,A
14798314.63
19
50639803
.
TGCCGCCGCTGCC
T,TGCCGCCGCCGCTGCC
14492579.76
19
50639819
.
G
A
500.63
19
50639821
.
C
T
106.73
19
50639828
.
G
C
404.87
19
50639829
.
C
T
228.56
Mapping repeat track to Kaviar: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
50639794
.
AGCCGCCGCTGCCGCCGCTGCCGCCGCCGCCGCCG
AGCCGCCGCTGCCGCCGCCGCCGCCG
.
19
50639795
.
GCCGCCGCTGCCGCCGCTGC
GCCGCCGCTGC
.
19
50639795
.
GCCGCCGCTGCCGCCGCTGCC
GCCGCCGCTGCC
.
19
50639795
.
GCCGCCGCTGCCGCCGCTGCCGC
GCCGCCGCTGCCGC
.
19
50639824
rs74952299
C
A
.