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_nameRefSeqScoreNofPmidsNofSnpsSource
Malignant neoplasm of breastNM_0011603280.3000UNIPROT
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
.