| General information of RDP00565 | |
|---|---|
| Gene Symbol: | SLC6A5 |
| RefSeq ID: | NM_001318369 |
| Repeat coordinate: | chr11:20600335-20600410 (+) |
| Repeat size: | 25 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| Repeat conservation: | PhastCons_score: 0.019; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| 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 |
| Hyperekplexia 3, 614618 (3) | 604159 | 11p15.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| HYPEREKPLEXIA 1 | NM_001318369 | 0.30 | 0 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
20600324
.
AAAGAAGAAGAGGAAGAAGAAGAAGAAG
AAAGAAGAAGAAG,AAAGAAG,AAAGAAGAAGAAGAAG,AAAGAAGAAG,A,AAAG
360425.76
11
20600335
rs139079391
GGAAGAAGAAGAAGAA
GGAAGAAGAAGAA,GGAAGAAGAA,GGAAGAA,GGAA,GGAAGAAGAAGAAGAAGAA,G
3764006.95
11
20600336
.
G
C
3160588.17
11
20600338
rs866809049
A
AGAAGAG
3125427.38
11
20600340
.
A
G
2991455.21
11
20600341
rs868546117
A
AGAG,AGAAGAAGAAGAG
2944625.65
11
20600342
.
GA
G
2501228.90
11
20600343
.
A
AGGAAGTGGAAGT
2447040.85
11
20600344
rs149883299
AG
GG,AGAAGAAGAGG,A
2439244.68
11
20600345
.
GAAGAAGAAGAAGAAGAA
G,GGAAGAA
1744712.27
11
20600346
.
AAGAAGAAGAAGAAGAAG
TAGAAGAAGAAGAAGAAG,A
1692895.79
11
20600347
rs375266941
A
AGAAGAG
1697439.65
11
20600348
.
GA
G
1081472.02
11
20600350
rs763212454
A
AGAG,G
1065787.62
11
20600351
.
GAA
G,GA
634608.26
11
20600352
.
AAG
A
626006.45
11
20600353
rs185046558
A
G
623176.76
11
20600354
.
GAA
G
401880.37
11
20600356
.
A
G
396576.45
11
20600357
.
GAAGAAGA
GGAAGA,GAGAAGA,G
196283.60
11
20600359
rs867947448
A
G
193830.02
11
20600360
.
GAAGAAGAAGAAGA
G,TAAGAAGAAGAAGA
100425.55
11
20600361
.
A
T
99739.77
11
20600377
.
AG
A
4277.12
11
20600379
.
AAGAAGAAGAAGAAGAAG
GAGAAGAAGAAGAAGAAG,A
649.23
11
20600383
.
AGAAGAAGAAGAAGAAG
A
1376.26
11
20600384
rs759447184
G
C,GAAGA
3112.57
11
20600386
.
AGAAGAAGAAGAAG
A
5486.22
11
20600387
.
G
GAAGAAGAAC
6038.69
11
20600389
.
AGAAGAAGAAG
A,AGAAGAGGAAGAAGAAG,AGAAGAAGAAGAGGAAGAAGAAG
11587.99
11
20600392
.
AGAAGAAG
A
11577.43
11
20600393
.
GA
G
12424.86
11
20600395
.
AGAAG
A
14582.15
11
20600396
.
GAAGAAGAAGAA
G
15734.24
11
20600398
rs138564512
AG
A
26723.69
11
20600399
.
G
GAAGAAGAAGAAGAAGAAGAA,GAAGAA,GAAGAAGAA,GAAGAAGAAGAAGAA,GAAGAAGAAGAA,GAAGAAGAAGAAGAAGAA
350838.99
11
20600402
.
GA
G
3122.15
11
20600404
rs562125653
A
G
2570.52
11
20600405
.
GAAGAAGAC
GAGAAGAC,G
4893.38
11
20600407
rs527947658
A
G,AGAAGAAGAAGAG
4175.99
11
20600408
.
GAAGAC
G
3747.28
11
20600409
rs371589269
A
G,AAGAAGG
11681.63
11
20600410
.
A
C,AGAAGAAGAAGAG
5770.72
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
20600333
.
GAGGAA
GAAGAA
.
11
20600335
.
GGAA
AGAA
.
11
20600335
rs55891826
GGAA
G
.
11
20600335
rs60411510
GGAAGAAGAA
G
.
11
20600335
.
GGAAGAAGAAGAAGAAGAA
G
.
11
20600335
.
GGAAGAAGAAGAAGAAGAAGAAGAA
G
.
11
20600335
.
GGAAGAAGAAGAAGAAGAAGAAGAAGAA
G
.
11
20600335
.
GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
G
.
11
20600338
.
A
G
.
11
20600339
.
GAA
GAG
.
11
20600341
.
A
G
.
11
20600344
rs149883299
A
G
.
11
20600345
.
G
A
.
11
20600347
rs375266941
A
G
.
11
20600350
rs763212454
A
G
.
11
20600353
rs185046558
A
G
.
11
20600356
.
A
G
.
11
20600359
.
A
G
.
11
20600377
.
A
G
.
11
20600384
rs759447184
G
GA
.
11
20600385
.
A
G
.
11
20600389
.
AG
CT
.
11
20600398
rs138564512
AG
A
.
11
20600399
.
G
GAA
.
11
20600401
rs541813946
A
G
.
11
20600404
rs562125653
A
G
.
11
20600407
rs527947658
A
G
.
11
20600409
rs371589269
A
G
.