General information of RDP00105
Gene Symbol:MTA1
RefSeq ID:NM_001203258
Repeat coordinate:chr14:105419883-105419910 (+)
Repeat size:9
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.025; 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
EndometriomaNM_0012032580.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
105419883
rs587635485
TCGGCGGCGG
T,TCGGCGGCGGCGG,TCGGCGG,TCGGCGGCGGCGGCGGCGG,TCGGCGGCGGCGGCGG,TCGG
125816.11
14
105419884
.
C
T
12891.95
14
105419892
.
G
GCCT
4736.71
14
105419900
.
G
A
1314.99
14
105419903
.
G
GGCGGCGGCA
589.79
14
105419904
.
G
A
539.56
14
105419907
.
G
GCGGCAGCAGCGC
168.71
14
105419909
.
G
GGCA,T,GGCAGCA
1819.99
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
105419883
.
TCGGCGGCGG
T
.
14
105419892
.
G
T
.