General information of RDP00483
Gene Symbol:AFF3
RefSeq ID:NM_001025108
Repeat coordinate:chr2:100104799-100104823 (-)
Repeat size:8
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.083; 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
Prescription Drug AbuseNM_0010251080.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
100104780
.
GGCCCGGCCCGCTGCTGCAGCCGCCGCCGCC
G
446.89
2
100104787
.
CCCGCTGCTGCAGCCGCCGCCG
C
1684.89
2
100104798
rs868237291
AGCCGCCGCCGCC
A,AGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,AGCC,AGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC
2046777.45
2
100104801
.
C
A
1351226.77
2
100104808
.
G
A
835188.33
2
100104809
.
C
T
828038.53
2
100104811
.
G
A
716.37
2
100104821
.
C
T
205.47
2
100104823
.
G
GC
617.19
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
100104798
.
AGCCGCCGCC
A,AGCCGCCGCCGCCGCCGCC
.
2
100104798
.
AGCCGCCGCCGCC
A,AGCC
.