General information of RDP00310 | |
---|---|
Gene Symbol: | NALF1 |
RefSeq ID: | NM_001080396 |
Repeat coordinate: | chr13:107866168-107866186 (-) |
Repeat size: | 6 |
Repeat region: | CDS |
Repeat unit: | CGG |
Repeat conservation: | PhastCons_score: 0.984; Repeat Conservation from UCSC Genome Browser |
Amino acid sequence: | GGGGG |
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 |
Diverticular Bleeding | NM_001080396 | 0.30 | 1 | 0 | CTD_human |
Mapping repeat track to ESP: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
107866179
rs201168561
C
T
.
Mapping repeat track to ExAC: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
107866167
rs538202391
TGCC
T,TGCCGCCGCC,TGCCGCC,CGCC,TGCCGCCGCCGCC
104605.12
13
107866179
rs201168561
C
T
24959.05
13
107866181
rs755192279
C
G
2457.09
13
107866182
rs781550463
C
T
110.56
13
107866183
.
G
GCCA
1236.79
13
107866184
.
C
T
567.17
13
107866185
.
C
T
1714.08
13
107866186
rs546864526
G
A,C
6770.97
Mapping repeat track to gnomAD: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
107866167
rs538202391
TGCC
TGCCGCCGCC,T,TGCCGCC
6175.81
13
107866179
rs201168561
C
T
2297.95
13
107866186
rs546864526
G
A
785.12
Mapping repeat track to Kaviar: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
107866167
rs761937358
TGCC
T
.
13
107866167
rs758567758
TGCCGCC
T
.
13
107866179
rs201168561
C
T
.
13
107866179
.
C
CG
.
13
107866181
rs755192279
C
G
.
13
107866182
rs781550463
C
T
.
13
107866183
.
G
GG
.
13
107866185
.
C
CG
.
13
107866185
.
C
CG
.
13
107866186
rs546864526
G
A,C
.