General information of RDP00277
Gene Symbol:DMRTA2
RefSeq ID:NM_032110
Repeat coordinate:chr1:50419101-50419128 (-)
Repeat size:9
Repeat region:CDS
Repeat unit:CCG
Repeat conservation:PhastCons_score: 0.464; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:AAAAAAAA
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
50419101
rs761537995
CCGGCGG
C,CCGG
158245.75
1
50419102
.
CGG
C
168384.90
1
50419103
.
G
GGCA
165084.57
1
50419106
rs2746610
G
A
1949889.96
1
50419109
rs751385375
G
A
6304.77
1
50419111
.
C
T
73.49
1
50419112
rs368034286
G
A
148846.90
1
50419115
rs780956345
G
A
104.36
1
50419118
.
G
T
55.93
1
50419120
.
C
T
35.97
1
50419125
.
G
T
451.44
1
50419126
.
C
T
106.76
1
50419127
rs745988749
G
T
3536.85
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
50419101
rs761537995
CCGGCGGCGGCGG
CCGGCGG,CCGGCGGCGG,CCGG,CCGGCAGCGGCGGCGGCGGCGGCGG,C,CCGGCAGCGGCGGCGGCGG
2185799.09
1
50419103
.
G
GGCA
2234925.36
1
50419106
rs2746610
G
A
12052385.14
1
50419109
rs751385375
G
A
18758.77
1
50419112
rs368034286
G
A
2183486.53
1
50419114
.
C
G
601.11
1
50419115
rs780956345
G
A
6799.43
1
50419118
.
G
A
1277.30
1
50419125
.
G
T
837.27
1
50419128
.
G
T
156.82
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
50419101
rs768917554
CCGG
C
.
1
50419101
rs4027495
CCGGCGG
C
.
1
50419101
rs776833367
CCGGCGGCGG
C
.
1
50419102
.
CGGCGGCGGCG
CGGCAGCGGCG
.
1
50419103
.
GGCGGCGGCG
GGCA
.
1
50419103
.
G
GGCA
.
1
50419104
.
GCG
GCA
.
1
50419104
.
GCGGCG
GCAGCG
.
1
50419105
.
CGGCGGCG
CA,CAGCGGCG
.
1
50419105
.
CGGCGGCGGCGGC
CAGCGGCGGCGGC
.
1
50419105
.
CGGCGGCGGCGGCGGCGGCGGC
CAGCGGCGGCGGCGGCGGCGGC
.
1
50419106
rs2746610
G
A
.
1
50419106
.
GG
AG
.
1
50419106
.
GGC
AGC
.
1
50419106
.
GGCG
A,AGCG
.
1
50419106
.
GGCGG
AGCGG
.
1
50419106
.
GGCGGC
AGCGGC
.
1
50419106
.
GGCGGCG
A,AGCG,AGCGGCG
.
1
50419106
.
GGCGGCGGC
AGCGGCGGC
.
1
50419106
.
GGCGGCGGCG
AGCG
.
1
50419106
.
GGCGGCGGCGGCG
AGCGGCGGCGGCG
.
1
50419106
.
GGCGGCGGCGGCGGCGG
AGCGGCGGCGGCGGCGG
.
1
50419109
rs751385375
G
A
.
1
50419112
rs368034286
G
A
.
1
50419115
rs780956345
G
A
.
1
50419118
.
G
T
.
1
50419127
rs745988749
G
T
.