General information of RDP00459
Gene Symbol:MAPK6
RefSeq ID:NM_002748
Repeat coordinate:chr15:52019444-52019465 (+)
Repeat size:7
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 1.000; 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 DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
HyperplasiaNM_0027480.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
52019415
.
GGGCGGCTCGGGAGGGCGCCGCGGCGGGCCCGGCGGC
G
510.83
15
52019444
.
CCGGCGGCGG
CCGGCGG,CCGGCGGCGGCGG,C,CCGGCGGCGGCGGCGGCGG,CCGG,CCGGCGGCGGCGGCGG
2125992.62
15
52019448
.
C
T
9639.80
15
52019450
.
GCGGCGGCGGCGGCGGCGA
G
10441.34
15
52019453
.
G
GCGGCGGCGGCGGCGA
9816.64
15
52019454
.
C
A
3483.61
15
52019456
.
GCGGCGGCGGCGA
GCGGCGGCGGCGACGGCGGCGGCGA,G
4006.20
15
52019459
.
G
GCGGCGGCGGCGA
4052.07
15
52019460
.
C
T
1626.54
15
52019462
.
GCGGCGACGGCGGAGC
G
2411.77
15
52019463
.
C
T
2593.96
15
52019465
.
G
GCGA
11099.12
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
52019444
.
CCGG
CCGGCGG,C
.
15
52019464
.
G
A
.
15
52019465
.
G
A
.