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_name | RefSeq | Score | NofPmids | NofSnps | Source |
Endometrioma | NM_001203258 | 0.30 | 1 | 0 | CTD_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
.