General information of RDP00623
Gene Symbol:BRSK2
RefSeq ID:NR_046331
Repeat coordinate:chr11:1390000-1390027 (+)
Repeat size:9
Repeat region:exon
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.032; 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
Intellectual DisabilityNR_0463310.3010GENOMICS_ENGLAND
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
1390000
.
TCGG
T
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
1390000
rs34937681
TCGGCGGCGG
TCGGCGG,TCGGCGGCGGCGGCGG,TCGGCGGCGGCGG,TCGGCGGCGGCGGCGGCGG,T,TCGG
704630.36
11
1390019
.
C
A
2125.79
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
1390000
rs3081415
TCGG
T
.