| General information of RDP00207 | |
|---|---|
| Gene Symbol: | L3MBTL3 |
| RefSeq ID: | NM_001007102 |
| Repeat coordinate: | chr6:130018515-130018533 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.998; 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 |
| Mammary Carcinoma, Human | NM_001007102 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
130018514
rs755522434
AGCGGCGGCG
AGCGGCG,AGCGGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,AGCGGCGGCGGCG,A
215584.58
6
130018517
rs867603022
G
C
88345.01
6
130018529
.
G
A,T
381.40
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
130018514
.
AGCG
A
.
6
130018514
rs755522434
AGCG
A
.
6
130018518
.
G
GC
.
6
130018528
.
CG
ACT
.