General information of RDP00283
Gene Symbol:BTBD2
RefSeq ID:NM_017797
Repeat coordinate:chr19:2015543-2015579 (-)
Repeat size:12
Repeat region:CDS
Repeat unit:CCG
Repeat conservation:PhastCons_score: 0.311; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:AAAAAAAAAAA
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
2015541
.
GGGCGGCGGCGGC
G
100
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
2015541
rs533915623
GGGC
G
1341.02
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
2015541
rs533915623
GGGCGGCGGCGGCGGCGGCGGC
GGGCGGCGGC,GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGCGGC,G
6336012.32
19
2015544
.
C
CGGG,A
5100896.02
19
2015558
.
G
A
100531.53
19
2015571
.
CGG
C
2110.07
19
2015573
.
G
A
1459.38
19
2015574
.
CGGCG
C,CCG
1216.25
19
2015577
.
CG
C
1018.20
19
2015578
.
G
C
2856.93
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
2015541
.
GGGC
G
.
19
2015541
.
GGGCGGC
G,GGGC
.
19
2015541
.
GGGCGGCGGC
G
.
19
2015541
rs533915623
GGGCGGCGGCGGC
G,GGGCGGCGGC
.
19
2015541
.
GGGCGGCGGCGGCGGCGGCGGC
G
.