| General information of RDP00266 | |
|---|---|
| Gene Symbol: | RAI1 |
| RefSeq ID: | NM_030665 |
| Repeat coordinate: | chr17:17793779-17793818 (+) |
| Repeat size: | 13 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.945; 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 |
| Smith-Magenis syndrome, 182290 (3) | 607642 | 17p11.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| YUAN-HAREL-LUPSKI SYNDROME | NM_030665 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
17793779
196559
CCAG
C
.
17
17793779
212015
CCAGCAG
C
.
17
17793779
196558
CCAGCAGCAG
C
.
17
17793779
130088
CCAGCAGCAGCAG
C
.
17
17793779
96200
CCAGCAGCAGCAGCAGCAGCAG
C
.
17
17793783
130085
CAG
C
.
17
17793784
167555
AGC
A
.
17
17793785
96198
G
A
.
17
17793786
436487
C
CCAGCAG
.
17
17793787
403362
AGCAG
A
.
17
17793788
96199
G
A
.
17
17793797
283887
G
A
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
17793785
rs11078398
G
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
17793777
rs758128530
GACC
G,AACC
1892.71
17
17793780
.
CA
AA,C
64246003.57
17
17793781
.
A
C
64203948.64
17
17793782
rs751663101
GCA
GCAACA,ACA,CCA,G
64403989.77
17
17793783
rs587780429
C
T,CAGG
55820343.79
17
17793784
rs149882795
AGC
A
182090426.32
17
17793785
rs11078398
G
A
190893554.09
17
17793787
rs747000217
AGCAGCAGCAGCAG
ACAGCAGCAG,ACAGCAGCAGCAG,ACAGCAG,A,ACAG
156308514.96
17
17793788
rs398124421
GCAGC
ACAGC,G
152868939.57
17
17793791
rs748280748
G
A
78722460.23
17
17793794
.
G
A
12954525.05
17
17793797
.
G
A
4575759.18
17
17793802
rs777648176
A
C
642896.05
17
17793804
.
C
CATTAAG
113291.34
17
17793806
rs770576612
G
T
113900.24
17
17793813
.
CAGCAGCA
C,TAGCAGCA
2283.27
17
17793814
.
AGC
A
4605.94
17
17793815
rs745492053
GCAGCAA
G
10688.58
17
17793818
.
GCAA
G
4885.95
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
17793779
rs587780428
CCAGCAGCAGCAG
CCAGCAGCAG,C,CCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAG,CCAG
2784430.22
17
17793781
.
AG
A
2315329.04
17
17793782
rs751663101
G
GCAA
2349786.73
17
17793784
rs149882795
AGC
A
9336417.32
17
17793785
rs11078398
G
A
9418593.49
17
17793787
rs747000217
AGCAGCAGCAG
ACAGCAG,ACAGCAGCAG,A,ACAG
9066116.32
17
17793788
rs398124421
G
A
9005799.11
17
17793789
.
C
T
1240139.94
17
17793790
.
AG
A
1239899.53
17
17793791
rs748280748
G
A
1238025.07
17
17793793
.
A
G
238391.81
17
17793796
.
AGC
A
195259.46
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
17793777
rs758128530
GACC
G
.
17
17793779
rs794727528
CCAG
CCAGCAG,CCAGCAGCAG,C
.
17
17793779
rs797045910
CCAGCAG
CCAG,C
.
17
17793779
rs794727527
CCAGCAGCAG
CCAGCAG,C
.
17
17793779
rs587780431
CCAGCAGCAGCAG
CCAG,CCAGCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAG,C
.
17
17793779
.
CCAGCAGCAGCAGCAGCAG
C
.
17
17793779
rs398124422
CCAGCAGCAGCAGCAGCAGCAG
C
.
17
17793780
.
CAGCAGCAGC
C
.
17
17793780
.
CAGCAGCAGCAGCAG
CAGCAG
.
17
17793782
rs751663101
G
C,GCAA
.
17
17793782
rs571229335
G
GCAA,GCAG
.
17
17793783
rs587780429
CAG
C
.
17
17793784
rs149882795
A
G
.
17
17793784
.
AGCAGCAG
AACAG
.
17
17793784
rs35068024
AGC
A
.
17
17793785
rs11078398
G
A,C
.
17
17793785
.
GCAG
A,ACAG
.
17
17793785
.
GCAGCAG
A,ACAGCAG
.
17
17793785
.
GCAGCAGCAG
ACAGCAGCAG
.
17
17793785
.
GCAGCAGCAGCAG
A,ACAGCAGCAGCAG
.
17
17793785
.
GCAGCAGCAGCAGCAG
A,ACAGCAGCAGCAGCAG
.
17
17793785
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ACAGCAGCAGCAGCAGCAGCAG
.
17
17793786
rs144872134
C
A
.
17
17793787
rs398124421
AG
AA,A
.
17
17793787
rs747000217
AGC
A
.
17
17793787
rs775735568
AGCAG
A
.
17
17793787
rs763907492
AGCAGCAG
A
.
17
17793787
rs760854027
AGCAGCAGCAG
A
.
17
17793787
rs773911923
AGCAGCAGCAGCAG
A
.
17
17793787
rs757231723
AGCAGCAGCAGCAGCAG
A
.
17
17793791
rs748280748
G
A
.
17
17793796
.
AGCAGCAGCAGC
A
.
17
17793797
.
G
A
.
17
17793801
rs756018704
C
T
.
17
17793802
rs777648176
A
G
.
17
17793803
rs749246569
G
A,T
.
17
17793806
rs770576612
G
T
.
17
17793807
.
C
A
.
17
17793808
rs774201525
A
T
.
17
17793815
rs745492053
G
A
.
17
17793816
rs771803841
C
T
.
17
17793816
rs372058626
C
CA
.
17
17793817
rs775108814
A
G
.