| General information of RDP00262 | |
|---|---|
| Gene Symbol: | MEF2A |
| RefSeq ID: | NM_001130926 |
| Repeat coordinate: | chr15:99712504-99712537 (+) |
| Repeat size: | 11 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.630; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | QQQQQQQQQQQ |
| 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 |
| {Coronary artery disease, autosomal dominant, 1}, 608320 (3) | 600660 | 15q26.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 | NM_001130926 | 0.43 | 0 | 2 | CTD_human |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
99712504
403080
CCAGCAG
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
99712504
~rs72198683
CCAGCAGCAGCAGCAG
CCAGCAG,C,CCAGCAGCAG,CCAGCAGCAGCAG
.
15
99712530
.
AGCAGCAGCC
A
.
15
99712532
.
CAG
C
.
15
99712536
.
AGCC
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
99712504
rs374033278
CCAGCAGCAGCAGCAG
CCAGCAGCAG,CCAGCAGCAGCAG,C,CCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG
146823277.87
15
99712521
rs200861006
AGCAGCAGCAGCAGCAGCC
A
1704185.65
15
99712524
rs757465493
AGCAGCAGCAGCAGCC
A
493511.47
15
99712527
.
AGCAGCAGCAGCC
A
20537.64
15
99712529
.
CAG
C
14120.32
15
99712530
rs750513175
AGCAGCAGCCGCC
AGCC,AGCAGCAGCCGCAGCAGCCGCC,A
1890565.29
15
99712531
.
G
C
1865671.07
15
99712532
rs758607175
CAGCA
CCA,C
1861627.32
15
99712533
rs201861701
AGCAGCCGCCGCCACCACC
AGCCGCCACCACC,CGCAGCCGCCGCCACCACC,AGCCGCCGCCGCAGCCGCCGCCACCACC,A,AGCAGCCGCAGCCGCCGCCACCACC
1923298.46
15
99712535
rs755369143
CA
C
1902910.31
15
99712536
rs781490399
AGCC
A,CGCC,AGCCGCC,AGCAGCCGCC,AGCAGCAGCCGCC
2781412.31
15
99712537
.
G
T
2475384.53
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
99712504
rs374033278
CCAGCAGCAGCAGCAG
CCAGCAGCAG,CCAGCAGCAGCAG,C,CCAGCAGCAGCAGCAGCAG,CCAGCAG,CCAGCAGCAGCAGCAGCAGCAG
9424278.05
15
99712507
rs759372406
G
A
8313190.15
15
99712517
.
CAG
C
165558.03
15
99712518
rs756021312
AGCAGCAGCAGCAGCAGCAGCC
A
166202.67
15
99712520
.
CAGCAGCAGCAGCAGCA
C
84427.99
15
99712521
rs200861006
AGCAGCAGCAGCAGCAGCC
A,CGCAGCAGCAGCAGCAGCC
86393.47
15
99712527
.
AGCAGCAGCAGCC
A
5121.21
15
99712530
rs750513175
AGCAGCAGCC
A
129980.76
15
99712531
.
G
C
130518.95
15
99712532
rs758607175
CAG
C
138102.88
15
99712533
rs201861701
AGCAGCCGCCGCCACCACC
CGCAGCCGCCGCCACCACC,AGCCGCCACCACC,A,AGCCGCCGCCGCAGCCGCCGCCACCACC
142643.91
15
99712535
rs755369143
CA
C
141531.51
15
99712536
rs781490399
AGCC
AGCCGCC,AGCAGCCGCC,A,CGCC,AGCAGCAGCCGCCGCC
237029.23
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
99712504
rs745914434
CCAG
C
.
15
99712504
rs58424802
CCAGCAG
CCAG,CCAGCAGCAG,C
.
15
99712504
rs772724940
CCAGCAGCAG
C
.
15
99712504
.
CCAGCAGCAGCAG
C
.
15
99712504
rs748617871
CCAGCAGCAGCAGCAG
CCAGCAGCAGCAG,C
.
15
99712504
rs762575500
CCAGCAGCAGCAGCAGCAG
CCAG,CCAGCAGCAG,CCAGCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAG,C
.
15
99712505
rs766037675
CA
C
.
15
99712506
rs774334152
AGCAG
A
.
15
99712507
rs759372406
GCA
G
.
15
99712513
rs767378643
GCA
G
.
15
99712515
rs752703367
AGCAGCAGCAGCAGCAGCAGCAGCC
A
.
15
99712518
rs756021312
AGCAGCAGCAGCAGCAGCAGCC
A
.
15
99712521
rs200861006
A
C
.
15
99712523
rs755114794
C
T
.
15
99712524
rs757465493
A
C
.
15
99712526
.
C
A
.
15
99712527
.
A
C
.
15
99712530
.
A
C
.
15
99712530
rs560400205
AGCAGCAGCC
A
.
15
99712530
rs750513175
AGCAGCAGCCGCC
A
.
15
99712532
rs758607175
CAG
C
.
15
99712533
rs201861701
A
C
.
15
99712533
rs775593411
AGC
A
.
15
99712533
rs747168853
AGCAGCC
A
.
15
99712533
rs751962744
AGCAGCCGCCGCCACCACC
A
.
15
99712536
rs199811207
A
C
.
15
99712536
.
AG
CA
.
15
99712536
.
AGCC
A,AGCAGCAGCCGCC,AGCAGCCGCC,AGCCGCC,CGCC
.
15
99712536
rs781490399
A
AGCAGCAGCC,AGCAGCC,AGCC
.
15
99712536
rs759657998
AGCC
A
.