General information of RDP00300
Gene Symbol:C11orf68
RefSeq ID:NM_001135635
Repeat coordinate:chr11:65919009-65919027 (-)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.514; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:AAAAA
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
melanomaNM_0011356350.3010CTD_human
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
65919008
rs748792467
GGCC
G,GGCCGCC,GGCCGCCGCC
69551.23
11
65919012
.
G
A
926.49
11
65919013
.
C
T
4126.42
11
65919015
.
G
A
475.84
11
65919018
.
G
A
181.01
11
65919021
.
G
A
192.78
11
65919024
.
G
A
236
11
65919027
.
G
A
610.07
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
65919008
rs748792467
GGCCGCCGCC
GGCCGCCGCCGCC,GGCCGCC,GGCCGCCGCCGCCGCC,GGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCC,G
29340.80
11
65919019
.
C
T
472.66
11
65919025
.
C
CCGCCAT
408.60
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
65919008
rs748792467
GGCC
G
.
11
65919026
.
C
CG
.