| General information of RDP00321 | |
|---|---|
| Gene Symbol: | MAF |
| RefSeq ID: | NM_001031804 |
| Repeat coordinate: | chr16:79599201-79599225 (-) |
| Repeat size: | 8 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.141; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGGGG |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Cataract 21, multiple types, 610202 (3) | 177075 | 16q23.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| CATARACT 21, MULTIPLE TYPES | NM_001031804 | 0.80 | 4 | 5 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
79599192
474937
CCCGCCGCCTCCGCCG
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
79599201
rs779108045
TCCG
T,GCCG
18062.71
16
79599207
rs868331592
G
T
964.81
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
79599187
.
GCGCCCCCGCCGCCTCCGCCGCCGC
G
1393.19
16
79599192
.
CCCGCCGCCTCCGCCG
C,CCCGCCGCCGCCTCCGCCG,CCCGCCG,CCCGCCGCCGCCGCCTCCGCCG,CCCG
51335.55
16
79599201
rs779108045
TCCGCCGCCG
TCCG,TCCGCCGCCGCCGCCG,TCCGCCGCCGCCG,GCCGCCGCCG,T
147341.82
16
79599203
.
C
T
29786.93
16
79599207
rs868331592
G
T
92575.75
16
79599213
.
G
T
3972.29
16
79599221
.
C
T
669.15
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
79599207
.
G
T
.