| General information of RDP00118 | |
|---|---|
| Gene Symbol: | MAF |
| RefSeq ID: | NM_001031804 |
| Repeat coordinate: | chr16:79599909-79599933 (-) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 1.000; 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 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
79599908
259752
TGCC
T
.
16
79599908
259751
TGCCGCCGCC
T
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
79599911
rs371355137
C
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
79599908
rs781399613
TGCCGCCGCCGCC
TGCCGCCGCC,TGCCGCC,TGCC,TGCCGCCGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC
360786604.13
16
79599909
rs769807778
GC
G
358116544.97
16
79599911
rs371355137
C
T
358086600.71
16
79599912
rs773714374
GCC
TCC,G
258957096.24
16
79599914
rs747668724
C
T,A
257743435.76
16
79599921
.
G
A
668638.53
16
79599923
.
C
T
673351.21
16
79599924
rs757927825
G
A
5604.73
16
79599926
rs763411678
CGCCGCCGCT
AGCCGCCGCT,TGCCGCCGCT,C
34924.27
16
79599927
.
G
T
12458.81
16
79599930
rs777921473
G
A,C,T
16214.88
16
79599932
.
C
T
9665.14
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
79599908
rs781399613
TGCCGCCGCCGCC
TGCCGCCGCC,TGCCGCC,T,TGCC,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCC
17496364.29
16
79599914
rs747668724
C
T
991427.62
16
79599926
rs763411678
CGCCGCCGCT
C
512.46
16
79599930
rs777921473
G
A
1518.15
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
79599908
.
TGCC
T
.
16
79599908
rs397692970
TGCC
T
.
16
79599908
rs757104610
TGCCGCC
T,TGCC
.
16
79599908
rs747303656
TGCCGCCGCC
T,TGCCGCC
.
16
79599908
rs772654314
TGCCGCCGCCGCC
T,TGCC,TGCCGCC,TGCCGCCGCC,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCC
.
16
79599909
rs769807778
GC
G
.
16
79599911
rs371355137
C
T
.
16
79599912
rs773714374
GCC
G
.
16
79599914
rs747668724
C
T
.
16
79599919
.
CCGC
T
.
16
79599923
.
C
CG
.
16
79599924
rs757927825
G
A,C
.
16
79599926
.
CGCCGCCGCT
C,TGCCGCCGCT
.
16
79599926
.
C
CG
.
16
79599926
rs763411678
CGCCGCCGCT
C
.
16
79599929
.
C
G
.
16
79599930
rs777921473
G
A,C
.
16
79599932
.
C
T
.
16
79599933
.
G
C
.