| General information of RDP00261 | |
|---|---|
| Gene Symbol: | EP400 |
| RefSeq ID: | NM_015409 |
| Repeat coordinate: | chr12:132062548-132062590 (+) |
| Repeat size: | 14 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.516; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | QQQQQQQQQQQQQQ |
| 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
12
132062551
rs74479394
G
A
.
12
132062578
rs150189184
G
A
.
12
132062578
~rs35873108
GCAGCAGCAGCAGCAA
G
.
12
132062581
~rs35873108
GCAGCAGCAGCAA
G
.
12
132062584
~rs35873108
GCAGCAGCAA
G
.
12
132062587
rs149369604
G
A
.
12
132062590
~rs35873108
GCAA
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
132062550
rs762341711
AGC
A
36081678.22
12
132062551
rs74479394
G
A
36290262.30
12
132062553
rs750481199
AGCAGCAGCAGCAG
ACAGCAGCAGCAG,ACAGCAGCAG,A,ACAG
7074892.11
12
132062554
rs145603866
G
A
7085575.95
12
132062555
.
C
CAGCAGT
3210275.86
12
132062557
rs755210119
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA,G
3234279.26
12
132062560
rs760015931
G
A,GCAA
1635372.74
12
132062563
rs765676594
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAA,G
999943.95
12
132062564
rs749097527
C
CAGCA
653395.95
12
132062566
rs554589559
GCAGCAGCAGCAGCAGCAGCAGCAGCAA
G,ACAGCAGCAGCAGCAGCAGCAGCAGCAA,CCAGCAGCAGCAGCAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAA
838949.33
12
132062569
rs778857123
GCAGCAGCAGCAGCAGCAGCAGCAA
GCAACAGCAGCAGCAGCAGCAGCAGCAA,G,ACAGCAGCAGCAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAA
548028.63
12
132062572
rs147048182
GCAGCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAGCAA,G,GCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAA
367160.21
12
132062575
rs774922343
GCAGCAGCAGCAGCAGCAA
G,GCACCAGCAGCAGCAGCAGCAA
243002.25
12
132062578
rs150189184
GCAGCAGCAGCAGCAA
G,ACAGCAGCAGCAGCAA,GCAACAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAACAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAA
189424.65
12
132062580
.
AGC
A
112939.88
12
132062581
rs762290324
GCAGCAGCAGCAA
G,ACAGCAGCAGCAA,GCAGCAGCAGCAGCAACAGCAGCAGCAA,GCAACAGCAGCAGCAA,GCAGCAACAGCAGCAGCAA
180368.57
12
132062583
rs796500775
AGCAG
AAG,A
169359.90
12
132062584
rs763599823
G
GCAGCAGCAA,GCAGCAGCAGCAA,GCAGCAGCAGCAGCAA,A,GCAA
220502.70
12
132062586
rs757019863
AG
A
166544.45
12
132062587
rs778730154
GCAGCAA
ACAGCAA,GCAGCAACAGCAA,GCAGCAGCAACAGCAA,G,GCAGCAGCAGCAACAGCAA
368483.28
12
132062590
rs746511450
GCAA
ACAA,GCAACAA,GCAGCAACAA,G
282596.48
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
132062523
rs760738183
GGCAGCAGCAGCAGCAGCAGCAACAACAGCAGCA
GGCAGCAGCAGCAGCAGCAGCAGCAACAACAGCAGCA,GGCAGCAGCAGCAGCAGCAACAACAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAACAACAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAACAGCAGCA,G,GGCAGCA
3322001.92
12
132062548
rs10902490
ACAG
ACAGCAG,GCAG,A,ACAGCAGCAG,ACAGCAGCAGCAG,ACAGCAGCAGCAGCAG
8366466.61
12
132062550
rs762341711
AGC
A
219412.98
12
132062551
rs74479394
G
A
255292.02
12
132062553
rs750481199
AGCAGCAGCAGCAG
ACAGCAGCAGCAG,ACAGCAGCAG,ACAGCAG,A
107789.14
12
132062554
rs145603866
G
A
108432.57
12
132062555
.
C
A
34464.77
12
132062556
.
A
AGCT
34455.13
12
132062557
rs755210119
G
A,GCAA
36782.10
12
132062558
.
C
CAGA
14720.77
12
132062563
rs765676594
G
A
11403.98
12
132062566
rs554589559
GCAGCAGCAGCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAGCAGCAGCAA,G
13184.37
12
132062569
rs778857123
GCAGCAGCAGCAGCAGCAGCAGCAA
G
6693.18
12
132062572
rs147048182
G
GCAGCAGCAGCAGCAGCAGCAA
6173.81
12
132062575
rs774922343
GCAGCAGCAGCAGCAGCAA
G
3664.41
12
132062578
rs150189184
GCAGCAGCAGCAGCAA
G,GCAGCAGCAGCAGCAACAGCAGCAGCAGCAA,GCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAA,GCAACAGCAGCAGCAGCAA
6355.22
12
132062581
rs762290324
GCAGCAGCAGCAA
G,ACAGCAGCAGCAA
17041.08
12
132062583
rs796500775
AGC
A
16747.49
12
132062584
rs763599823
GCAGCAGCAA
G,ACAGCAGCAA,GCAGCAGCAGCAACAGCAGCAA
15284.17
12
132062586
rs757019863
AG
A
13378.72
12
132062587
rs778730154
G
A,GCAGCAGCAA
17809.68
12
132062588
.
C
T
13478.26
12
132062590
rs746511450
GCAA
G,GCAGCAACAA
18697.51
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
132062523
rs767173715
GGCAGCAGCAGCAGCAGCAGCAACAACAGCAGCAGCAGCAGCAGCA
G
.
12
132062544
rs771676210
AACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
A
.
12
132062545
.
ACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
A,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,AGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,GCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
.
12
132062545
rs760295360
ACAACAGCAG
A
.
12
132062545
rs764508101
ACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
A
.
12
132062548
.
ACAGCAGCAGCAG
A
.
12
132062548
.
ACAGCAGCAGCAGCAG
A
.
12
132062549
.
CAG
CAA
.
12
132062549
rs113304321
CAG
C
.
12
132062550
.
AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
AGCAGCAGCAGCAG
.
12
132062550
rs762341711
AGC
A
.
12
132062551
rs74479394
G
A
.
12
132062551
.
GC
G
.
12
132062553
rs758577592
AGCAG
A
.
12
132062553
rs750481199
AGCAGCAGCAG
A
.
12
132062553
rs765852104
AGCAGCAGCAGCAG
A
.
12
132062553
rs751780962
AGCAGCAGCAGCAGCAGCAG
A
.
12
132062553
rs780034292
AGCAGCAGCAGCAGCAGCAGCAG
A
.
12
132062554
rs145603866
G
A
.
12
132062557
.
G
A
.
12
132062557
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA,G
.
12
132062557
rs755210119
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
G
.
12
132062559
rs71838933
A
AAGC
.
12
132062560
rs760015931
G
A
.
12
132062563
rs765676594
G
A
.
12
132062563
rs777559269
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
G
.
12
132062564
rs749097527
C
CAGCA
.
12
132062565
rs752998162
A
C
.
12
132062566
rs554589559
G
A
.
12
132062566
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAA
ACAGCAGCAGCAGCAGCAGCAGCAGCAA,G
.
12
132062566
rs770809507
GCAGCAGCAGCAGCAGCAGCAGCAGCAA
G
.
12
132062567
rs34444665
C
CCAG
.
12
132062569
rs778857123
GCAGCAGCAGCAGCAGCAGCAGCAA
G
.
12
132062572
rs147048182
G
A
.
12
132062572
rs151326088
G
GCAGCAGCAGCAGCAGCAGCAA,GGCA
.
12
132062572
rs745846781
GCAGCAGCAGCAGCAGCAGCAA
G
.
12
132062575
rs774922343
GCAGCAGCAGCAGCAGCAA
G
.
12
132062578
rs150189184
G
A
.
12
132062578
rs768195746
G
GCAA,GCAGCAGCAGCAGCAA
.
12
132062578
rs760372352
GCAGCAGCAGCAGCAA
G
.
12
132062581
rs762290324
G
GCAA
.
12
132062581
rs765799011
GCAGCAGCAGCAA
G
.
12
132062582
rs773820900
CAGCAGCAGCAACAGCAGCAGCAGCAACAG
C
.
12
132062583
rs796500775
AGC
A
.
12
132062584
rs540349271
G
A,C
.
12
132062584
rs763599823
G
GCAA,GCAGCAGCAGCAA,GCAGCAGCAGCAGCAA,GGC
.
12
132062584
rs766465531
GCAGCAGCAA
G
.
12
132062585
rs753593446
CAGCAGCAACAGCAGCAGCAGCAACAG
C
.
12
132062587
rs149369604
G
A
.
12
132062587
rs778730154
G
GCAGCAA,GCAGCAGCAA
.
12
132062587
rs758337357
GCAGCAA
G
.
12
132062590
rs750909030
G
A
.
12
132062590
rs746511450
G
GCAGCAA
.
12
132062590
rs779552789
GCAA
GCAG,G
.