General information of RDP00268
Gene Symbol:MED15
RefSeq ID:NM_001003891
Repeat coordinate:chr22:20566526-20566562 (+)
Repeat size:12
Repeat region:CDS
Repeat unit:CAG
Repeat conservation:PhastCons_score: 0.960; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:QQQQQQQQQQQQ
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
SchizophreniaNM_0010038910.3220PSYGENET
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
20566526
.
ACAGCAGCAGCAGCAGCAG
ACAGCAGCAGCAGCAGCAGCAG,A
100
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
20566532
rs368721341
G
A
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
20566481
rs770018974
ACAGCAGCTGCAGCGAATAGCACAGCTGCAGCTCCAACAACAGCAACAGCAGCAGCAG
GCAGCAGCTGCAGCGAATAGCACAGCTGCAGCTCCAACAACAGCAACAGCAGCAGCAG,ACAGCAGCAGCTGCAGCGAATAGCACAGCTGCAGCTCCAACAACAGCAACAGCAGCAGCAG,A
8015.31
22
20566507
.
TGCAGCTCCAACAACAGCAACAGCAGCA
T,TGCAGCA
14322.33
22
20566520
rs761703885
ACAGCAACAGCAGCAG
ACAGCAG,GCAGCAACAGCAGCAG,A
39536.32
22
20566526
rs780625319
ACAGCAGCAG
ACAGCAG,ACAGCAGCAGCAG,ACAG,A,ACAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAG
92637371.79
22
20566529
.
G
GCAA
28712575.16
22
20566532
rs368721341
G
A
11937340.98
22
20566535
rs758830842
G
A,GCAGCAGCAA
1312086.37
22
20566537
.
A
G
445764.45
22
20566543
.
A
AGCG
37378.14
22
20566547
rs777947040
G
A,GCAA
20149.79
22
20566557
.
C
G
1763.58
22
20566559
rs747268732
G
A,GCAT
1100.59
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
20566526
rs780625319
ACAGCAGCAG
ACAGCAGCAGCAG,ACAGCAG,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAG
4079574.74
22
20566547
rs777947040
G
GCAA
399.49
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
20566520
rs773958693
ACAGCAACAG
A
.
22
20566520
rs761703885
ACAGCAACAGCAG
A
.
22
20566526
rs760241815
ACAG
ACAGCAG,A
.
22
20566526
rs765791180
ACAGCAG
ACAGCAGCAG,A
.
22
20566526
rs753419996
ACAGCAGCAG
ACAG,ACAGCAG,ACAGCAGCAGCAG,ACAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAG,A
.
22
20566526
.
ACAGCAGCAGCAG
A
.
22
20566526
rs535773989
ACAGCAGCAGCAGCAGCAG
ACAGCAGCAGCAGCAGCAGCAG,A
.
22
20566529
.
G
A
.
22
20566532
rs368721341
G
A
.
22
20566535
rs758830842
G
GCAGCAGCAA
.
22
20566545
rs67182670
C
CCAG
.
22
20566547
rs777947040
G
GCAA
.
22
20566559
rs747268732
G
GCAT
.