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_nameRefSeqScoreNofPmidsNofSnpsSource
Diverticular BleedingNM_0010803960.3010CTD_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
.