| General information of RDP00097 | |
|---|---|
| Gene Symbol: | GTF2A1 |
| RefSeq ID: | NM_001278940 |
| Repeat coordinate: | chr14:81220932-81220953 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.989; 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 |
| Malignant neoplasm of breast | NM_001278940 | 0.30 | 0 | 0 | UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
81220932
rs545599369
ACCG
ACCGCCG,ACCGCCGCCG,A,ACCGCCGCCGCCG,ACCGCCGCCACCGCCG,ACCGCCGCCGCCGCCG
1018457.99
14
81220934
.
C
G
3328.02
14
81220936
.
C
A
3261
14
81220941
.
G
A
982.05
14
81220944
.
G
T
207.47
14
81220949
.
C
A
128.47
14
81220952
rs200373056
C
G,CGCG
43665.09
14
81220953
.
G
C
2483.79
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
81220932
.
ACCG
A
.
14
81220935
.
G
A
.
14
81220947
.
G
A
.
14
81220950
.
G
GC
.
14
81220952
rs200373056
C
G
.
14
81220952
.
C
CG
.