General information of RDP00201
Gene Symbol:FGF18
RefSeq ID:NM_003862
Repeat coordinate:chr5:171420096-171420123 (+)
Repeat size:9
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.546; 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 DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Sclerocystic OvariesNM_0038620.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
171420095
.
AGCGGCG
AGCG,AGCGGCGGCG,GGCGGCG,A,AGCGGCGGCGGCG
14309.51
5
171420097
.
C
A
2313.62
5
171420098
.
G
A
2267.49
5
171420118
.
C
A
152.51
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
171420098
.
G
A
.
5
171420115
.
C
G
.
5
171420118
.
C
A
.