General information of RDP00403
Gene Symbol:VWA1
RefSeq ID:NM_022834
Repeat coordinate:chr1:1435798-1435818 (+)
Repeat size:2
Repeat region:CDS
Repeat unit:GGCGCGGAGC
Repeat conservation:PhastCons_score: 0.195; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:ARSGAE
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
1435798
rs749383814
TGGCGCGGAGC
T,TGGCGCGGAGCGGCGCGGAGC
1102.51
1
1435801
.
C
T
963.75
1
1435803
.
C
T
876.29
1
1435808
rs534042580
C
T
6758.91
1
1435811
.
C
A
79.69
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
1435802
.
G
A,T
2766.45
1
1435808
rs534042580
C
T
3101.93
1
1435815
.
G
C
140.69
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
1435798
rs749383814
TGGCGCGGAGC
T
.
1
1435808
rs534042580
C
T
.
1
1435814
rs11556014
G
A
.