General information of RDP00264
Gene Symbol:VEZF1
RefSeq ID:NM_001330393
Repeat coordinate:chr17:57979245-57979281 (-)
Repeat size:12
Repeat region:CDS
Repeat unit:CAG
Repeat conservation:PhastCons_score: 0.869; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:QQQQQQQQQQQQ
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
57979246
rs73995411
C
T
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
57979240
rs747802250
TTGTTGCTGCTGCTGCTGCTGC
TTGCTGCTGCTGCTGC,CTGTTGCTGCTGCTGCTGCTGC,T,TTGTTGCTGCTGTTGCTGCTGCTGCTGCTGC,TTGTTGCTGTTGCTGCTGCTGCTGCTGC
13911.60
17
57979245
rs771151827
GC
G
8629791.04
17
57979246
rs73995411
C
T,CTGT
8847685.99
17
57979247
rs769991675
TGCTGCTGCTGC
TTGCTGCTGC,TTGCTGC,T
2735988.76
17
57979249
rs749225073
C
T
2736559.06
17
57979250
.
T
C
1455838.03
17
57979252
.
C
T
1454951.72
17
57979254
.
G
T
1190754.04
17
57979255
rs770811718
C
T
1194210.76
17
57979258
rs774372573
CT
C
939640.61
17
57979260
rs759350315
GCTGCTGCTGCTGCT
G
317789.91
17
57979261
rs772000558
C
T
318746.89
17
57979267
.
C
T
5862.10
17
57979271
.
T
C
4054.40
17
57979275
rs764213827
G
C,GCTC
7131.20
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
57979243
rs138088904
TTGCTGCTGCTGCTGC
TTGCTGCTGCTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGCTGCTGC,T,TTGCTGC
2503641.04
17
57979245
rs771151827
GC
G
556753.79
17
57979246
rs73995411
C
T
547560.98
17
57979247
rs769991675
TGCTGCTGCTGCTGCTGCTGC
TTGCTGCTGCTGCTGCTGC,TTGC,TTGCTGCTGCTGCTGC,T
173314.99
17
57979249
rs749225073
C
T
174399.81
17
57979267
.
C
T
1586.12
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
57979243
rs57786397
TTGC
T,TTGCTGC,TTGT
.
17
57979243
.
TTGCTGCTGC
T
.
17
57979243
.
TTGCTGCTGCTGC
T
.
17
57979243
.
TTGCTGCTGCTGCTGC
T
.
17
57979246
rs73995411
C
T
.
17
57979246
rs780474852
C
CTGC,CTGT
.
17
57979247
rs769991675
T
TGCG
.
17
57979247
rs775689252
TGC
T
.
17
57979247
rs761086295
TGCTGC
T
.
17
57979247
rs776936356
TGCTGCTGC
T
.
17
57979247
rs764579222
TGCTGCTGCTGC
T
.
17
57979248
rs777205309
G
T
.
17
57979249
rs749225073
C
T
.
17
57979251
.
G
A
.
17
57979252
.
C
T
.
17
57979255
rs770811718
C
T
.
17
57979258
rs774372573
C
T
.
17
57979260
rs759350315
G
T
.
17
57979261
rs772000558
C
T
.
17
57979264
rs544730362
C
T
.
17
57979268
rs775853458
T
C
.
17
57979272
rs762131064
G
GCTA
.
17
57979273
rs761037705
C
T
.
17
57979273
.
CTGCTGCTGCTTTTG
CTGGAGCTGCTTTTG
.
17
57979275
rs764213827
G
C,GCTC
.
17
57979275
rs765230121
G
GCTC
.