| General information of RDP00275 | |
|---|---|
| Gene Symbol: | SMARCA2 |
| RefSeq ID: | NM_001289396 |
| Repeat coordinate: | chr9:2039776-2039815 (+) |
| Repeat size: | 13 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.330; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | QQQQQQQQQQQQQ |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Nicolaides-Baraitser syndrome, 601358 (3) | 600014 | 9p24.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | NM_001289396 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2039776
126353
ACAG
A
.
9
2039776
212231
ACAGCAGCAG
A
.
9
2039776
212230
ACAGCAGCAGCAGCAG
A
.
9
2039776
436801
ACAGCAGCAGCAGCAGCAGCAGCAG
A
.
9
2039779
366198
G
A
.
9
2039787
366199
A
C
.
9
2039793
126351
A
C
.
9
2039805
366200
A
C
.
9
2039811
366201
A
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2039761
~rs34035317
ACAACAGCAGCAGCAACAG
A
.
9
2039787
rs147609454
A
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2039761
rs13296982
ACAACAGCAGCAGCAACAGCAGCAGCAG
ACAACAGCAGCAGCAG,GCAACAGCAGCAGCAACAGCAGCAGCAG,A
21922.55
9
2039764
rs758841478
ACAGCAGCAGCAACAGCAGCAGCAGCAG
ACAGCAGCAGCAG,ACAGCAG,ACAGCAGCAG,A,ACAG
96538.01
9
2039778
.
A
C
67386994.69
9
2039779
rs62639301
G
A,GCAGCAGCAA,GCAGCAGCAGCAGCAGCAGCAGCAA
67465799.31
9
2039781
rs761802516
A
AGCAGCAGCAGCC,AGCC
53544220.84
9
2039782
.
G
A
53534425.71
9
2039783
rs767388089
CAG
C
5420466.06
9
2039784
rs145170448
AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC,A
5474531.92
9
2039785
rs755049661
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
G
5422207.18
9
2039786
rs765203753
CAGCA
C,CGCA,CCA
1614255.28
9
2039787
rs147609454
AGC
CGC,AGCAGCAGCCGCAGCAGCCGC,A
1627325.21
9
2039788
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
G,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
1605747.33
9
2039789
rs796266636
CAG
C,CG
878475.81
9
2039790
rs753013339
A
C,AGCAGCAGCC,AGCAGCC,G
952273.54
9
2039791
rs142219087
GCAGCAGCAGCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAGCAGCAGCAA,G
899587.36
9
2039792
rs757850599
CAG
C,CG
437288.23
9
2039793
rs751906633
A
C,AGCC,AGCAGCAGCC,AGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
14572170.71
9
2039794
.
G
A
414933.16
9
2039795
rs779405725
CAGCAGCA
CCAGCA,CGCAGCA,C
149013.58
9
2039796
rs184126259
A
C,AGCAGCAGCAGCAGCAGCAGCAACAGCAGCC,AGCAGCAGCC
167913.65
9
2039797
rs774478658
GCAGCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAGCAA,G
144450.70
9
2039798
rs761550852
CA
C
85338.45
9
2039799
rs145635937
A
C,AACAGCAGCC,AGCC
229682.26
9
2039800
rs578143503
GCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAA,GCAACAGCAGCAGCAGCAGCAA,G
83442.91
9
2039801
rs773178214
CAG
C
55681.64
9
2039802
rs767788014
AGCAGCAGCAGCAGCAACAGCAGCC
CGCAGCAGCAGCAGCAACAGCAGCC,A
60532.16
9
2039803
rs760511909
G
A,GCAGCAGCAGCAGCAA
58315.74
9
2039804
rs750557515
CA
AA,C
41659.90
9
2039805
rs143245740
AGCAGCAGCAGCAACAGCAGCC
CGCAGCAGCAGCAACAGCAGCC,A,AGCAGCAGCAGCAACAGCAGCCGCAGCAGCAGCAACAGCAGCC,AGCAGCAGCAGCAGCAACAGCAGCCGCAGCAGCAGCAACAGCAGCC
290790.06
9
2039806
rs764352411
GCAGCAGCAGCAA
ACAGCAGCAGCAA,GCAGCAGCAGCAACAGCAGCAGCAA,G
58001.73
9
2039808
.
AGCAGCAGCAACAGCAGCCGCAGCAGCAGCC
CGCAGCAGCAACAGCAGCCGCAGCAGCAGCC,A
42754.35
9
2039809
rs751992423
GCAGCAGCAA
ACAGCAGCAA,G,GCAGCAACAGCAGCAA,GCAGCAGCAACAGCAGCAA
46729.81
9
2039811
rs560604623
AGCAGCAACAGCAGCC
CGCAGCAACAGCAGCC,A,GGCAGCAACAGCAGCC,AGCAGCAACAGCAGCCGCAGCAACAGCAGCC
47823.43
9
2039812
rs781661613
GCAGCAACAGCAGCCGCAGCAGCAGCCGCCGCAACCACAGACGCAGCAA
GCAGCAGCCGCAGCAGCAGCCGCCGCAACCACAGACGCAGCAA,GCAACAGCAACAGCAGCCGCAGCAGCAGCCGCCGCAACCACAGACGCAGCAA,GCAGCAACAGCAACAGCAGCCGCAGCAGCAGCCGCCGCAACCACAGACGCAGCAA,G
46087.42
9
2039814
rs761147990
A
C,AACAGCAGCC
75603.33
9
2039815
rs574062756
GCAA
G,TCAA,ACAA,GCAACAA
62489.94
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2039764
rs758841478
ACAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ACAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAG
8705.31
9
2039776
rs745316697
ACAGCAGCAG
ACAGCAG,ACAGCAGCAGCAG,ACAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAG,GCAGCAGCAG,A
4165694.77
9
2039779
rs62639301
G
A
3324076.25
9
2039782
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
G
438329.51
9
2039783
rs767388089
CAG
C
190989.96
9
2039784
rs145170448
AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC,A
193977.43
9
2039785
rs755049661
G
A
191387.87
9
2039786
rs765203753
CA
C
104442.74
9
2039787
rs147609454
A
C
105131.89
9
2039790
rs753013339
AGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
CGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC,A
92215.26
9
2039791
rs142219087
G
A
92202.35
9
2039793
rs751906633
A
C,AGCC,AGCAGCAGCC
786163.10
9
2039795
rs779405725
CAG
C
11308.64
9
2039796
rs184126259
AGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
A
11738.04
9
2039798
rs761550852
CA
C
6159.94
9
2039799
rs145635937
A
C
10809.12
9
2039800
rs578143503
GCAGCAGCAGCAGCAGCAA
G
5791
9
2039803
rs760511909
G
GCAGCAGCAGCAGCAA,A
6306.07
9
2039805
rs143245740
A
AGCAGCAGCAGCAACAGCAGCC,C
14114.18
9
2039811
rs560604623
AGCAGCAACAGCAGCC
A,CGCAGCAACAGCAGCC
4198.63
9
2039812
rs781661613
GCAGCAA
G
4363.57
9
2039814
rs761147990
AGCAACAGCAGCCGCAGCAGCAGCC
AACAGCAGCCGCAACAGCAGCCGCAGCAGCAGCC,A,CGCAACAGCAGCCGCAGCAGCAGCC
7770.09
9
2039815
rs574062756
GCAA
G
5511.74
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2039761
rs757162806
ACAACAGCAGCAGCAACAG
A
.
9
2039761
rs751535000
ACAACAGCAGCAGCAACAGCAGCAGCAG
A
.
9
2039764
rs755171359
ACAGCAGCAGCAACAG
A
.
9
2039764
rs753907033
ACAGCAGCAGCAACAGCAG
A
.
9
2039764
rs748496168
ACAGCAGCAGCAACAGCAGCAG
A
.
9
2039764
rs758841478
ACAGCAGCAGCAACAGCAGCAGCAG
A
.
9
2039764
rs779149422
ACAGCAGCAGCAACAGCAGCAGCAGCAG
A
.
9
2039764
rs766499227
ACAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
A
.
9
2039776
rs113070757
ACAG
A
.
9
2039776
rs762478166
ACAGCAG
A
.
9
2039776
rs797045978
ACAGCAGCAG
A
.
9
2039776
rs797045977
ACAGCAGCAGCAGCAG
A
.
9
2039779
rs62639301
G
A,GCAGCAGCAA
.
9
2039779
rs778095329
G
GCAGCAGCAA,GCAG
.
9
2039781
rs761802516
AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
A
.
9
2039783
rs767388089
CAG
C
.
9
2039784
rs145170448
A
C
.
9
2039784
.
AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
A,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
.
9
2039784
rs753939575
AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCC
A
.
9
2039785
rs755049661
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
G
.
9
2039786
rs147609454
CA
CC,C
.
9
2039789
rs796266636
CAG
C
.
9
2039790
.
A
C
.
9
2039790
rs753013339
A
AAG,AGCAGCAGCC,AGCC
.
9
2039791
rs142219087
G
A
.
9
2039791
.
GCA
GCC
.
9
2039792
rs796194670
CAG
C,CG
.
9
2039793
rs62534884
A
AGCAGCAGCAGCC,AGCAGCAGCC,AGCC,C
.
9
2039793
rs751906633
A
AAG,AGCAGCAGCAGCC,AGCAGCAGCC,AGCC
.
9
2039795
rs796153104
CAG
C
.
9
2039796
rs184126259
A
C
.
9
2039796
rs749022512
A
AAG,AGCAGCAGCC
.
9
2039797
rs774478658
G
A
.
9
2039797
rs774133062
GCAGCAGCAGCAGCAGCAGCAA
G
.
9
2039798
rs145635937
CA
CAGCC,CC,C
.
9
2039799
rs772031527
A
AGCC
.
9
2039800
rs578143503
G
A
.
9
2039801
rs773178214
CAG
C
.
9
2039802
rs767788014
A
G
.
9
2039803
rs149130789
G
A
.
9
2039803
.
GCAG
ACAA
.
9
2039803
rs760511909
G
GCAGCAGCAGCAGCAA
.
9
2039804
rs750557515
C
A
.
9
2039804
.
CA
AA,C
.
9
2039805
rs143245740
A
C
.
9
2039805
.
AGCAGCAGCAGCAACAGCAGCC
A,AGCAGCAGCAGCAACAGCAGCCGCAGCAGCAGCAACAGCAGCC,CGCAGCAGCAGCAACAGCAGCC
.
9
2039805
rs752716080
A
AGCAGCAGCAGCAACAGCAGCC
.
9
2039805
rs763242109
AGCAGCAGCAGCAACAGCAGCC
A
.
9
2039806
.
G
A
.
9
2039806
rs764352411
G
GCAGCAGCAGCAA
.
9
2039809
.
G
A
.
9
2039809
rs751992423
GCAGCAGCAA
G
.
9
2039811
rs560604623
A
C
.
9
2039811
rs757656100
AGCAGCAACAGCAGCC
A
.
9
2039812
rs781661613
G
GCAGCAA
.
9
2039812
rs750984628
GCAGCAA
G
.
9
2039814
rs761147990
A
C
.
9
2039814
.
AGCAACAGCAGCC
AGCAACAGCAGCA
.
9
2039815
rs574062756
G
A,T
.
9
2039815
rs756562013
GCAA
G
.