General information of RDP00204
Gene Symbol:KDM1B
RefSeq ID:NM_153042
Repeat coordinate:chr6:18155437-18155455 (+)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 1.000; 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
familial atrial fibrillationNM_1530420.3010CTD_human
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
18155436
.
AGCGGCGGCG
A
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
18155436
rs765530775
AGCGGCGGCG
AGCGGCG,A,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG
172179.84
6
18155444
.
C
T
84124.63
6
18155454
.
G
A
427.44
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
18155436
rs545050827
AGCGGCGGCG
A
.
6
18155439
.
GGCGGC
CGGCGGC
.
6
18155440
.
G
GC
.
6
18155446
.
GC
G,GG
.
6
18155449
.
GC
G,GG
.
6
18155452
.
GC
G
.