General information of RDP00092
Gene Symbol:KCTD12
RefSeq ID:NM_138444
Repeat coordinate:chr13:76886258-76886276 (-)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.006; 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
Mood DisordersNM_1384440.3010PSYGENET
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
76886258
.
CCCGCCGCCG
CCCGCCG,CCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCGCCGCCGCCG
690430.96
13
76886264
.
GCCGCCGCCGCCGCCA
G
568809.20
13
76886267
.
GCCGCCGCCGCCA
GCCGCCACCGCCGCCGCCA,G,GCCGCCGCCGCCACCGCCGCCGCCA
18947.95
13
76886270
rs750741203
GCCGCCGCCACCGCCGCCA
GCCGCCGCCACCGCCGCCACCGCCGCCA,GCCACCGCCGCCACCGCCGCCA,GCCGCCGCCA,ACCGCCGCCACCGCCGCCA,G
112015.51
13
76886273
rs190847367
GCCGCCACCGCCGCCA
ACCGCCACCGCCGCCA,G,GCCGCCACCGCCGCCACCGCCACCGCCGCCA
738501.22
13
76886276
.
GCCA
ACCA,G
123984.21
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
76886258
.
CCCG
C
.
13
76886258
.
CCCGCCG
C
.
13
76886258
.
CCCGCCGCCG
C
.
13
76886264
.
G
C
.
13
76886264
.
GCCGCCGCCGCCGCCACCGCCG
ACCGCCG,GCCGCCGCCACCGCCACCGCCG,GCCGCCGCCGCCGCCACCGCCGCCA,GCCGCCGCCGCCGCCACCGCCGCCACTG
.
13
76886270
rs555597920
G
A
.
13
76886270
rs750741203
G
GCCGCCGCCA
.
13
76886270
.
GCCGCCGCCA
G
.
13
76886271
.
CCG
CCA
.
13
76886273
rs190847367
G
A
.
13
76886273
.
GCCGCCACCGCCGCCA
GCCGCCACCGCCGCCACCA,G
.
13
76886276
.
G
A
.