General information of RDP00239
Gene Symbol:NTNG2
RefSeq ID:NM_032536
Repeat coordinate:chr9:132162064-132162082 (+)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.904; 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 DisabilityNM_0325360.3110GENOMICS_ENGLAND
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
132162064
rs568463296
ACGGCGGCGG
ACGGCGG,ACGGCGGCGGCGGCGGCGG,ACGGCGGCGGCGG,A,ACGGCGGCGGCGGCGG
361384.24
9
132162072
.
GGCGGCGGCGGCCACAGCGGCGGGA
G
1194.57
9
132162080
.
C
T
874.19
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
132162064
.
ACGG
A
.
9
132162064
.
ACGG
A
.
9
132162070
.
G
GC
.
9
132162070
.
G
GC
.
9
132162073
.
G
T
.
9
132162074
.
C
CG
.
9
132162080
.
C
CG
.
9
132162082
.
G
GC
.