General information of RDP00099
Gene Symbol:C14orf28
RefSeq ID:NM_001017923
Repeat coordinate:chr14:44897472-44897493 (+)
Repeat size:7
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.998; 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
Bipolar DisorderNM_0010179230.3010PSYGENET
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
44897467
.
AGGCAGCGGCGGC
AGGC,AGGCGGCAGCGGCGGC,A,AGGCAGCGGCGGCGGCGGCAGCGGCGGC,AGGCGGC
12216.15
14
44897471
rs775644182
AGCGGCGGCG
AGCGGCGGCGGCGGCG,AGCG,GGCGGCGGCG,A,AGCGGCGGCGGCG
157647.98
14
44897473
.
C
CGGCGGCGGCGGCGGCGGCGGCAGCCCGGGCTCTCCATGAGCA
34019.71
14
44897492
rs553262841
G
GGCA
679.44
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
44897467
.
AGGCAGC
A
.
14
44897467
.
AGGCAGCGGC
A
.
14
44897471
.
AGCG
A
.
14
44897475
.
G
GC
.
14
44897476
.
C
G
.
14
44897476
.
CG
AA
.
14
44897479
.
C
CG
.
14
44897492
rs553262841
G
A
.