General information of RDP00195
Gene Symbol:MAPK9
RefSeq ID:NM_001135044
Repeat coordinate:chr5:180291970-180291997 (-)
Repeat size:9
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.010; 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
Mechanical AllodyniaNM_0011350440.3010CTD_human
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
180291970
.
CCCG
C
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
180291961
.
CCGCTCCGCCCCG
C
418.16
5
180291970
rs556169756
CCCGCCGCCGCCG
CCCGCCGCCG,CCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,CCCG,C
9723862.69
5
180291971
.
C
G
7882620.59
5
180291972
.
CG
C
7877087.95
5
180291973
.
G
GCT,A,C,GCC
7851473.61
5
180291974
.
CCGCCG
C
3210332.18
5
180291976
.
G
GCTCCGCC
3122821.96
5
180291990
.
C
T
1389.35
5
180291993
.
C
T
331.74
5
180291994
.
G
C
396.37
5
180291996
.
CGCA
C
11141.27
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
180291970
rs556169756
CCCG
CCCGCCG,CCCGCCGCCG,C
.
5
180291970
.
CCCGCCG
CCCG,CCCGCCGCCG,C
.
5
180291975
.
CG
C
.
5
180291993
.
C
G
.