General information of RDP00172
Gene Symbol:TTC3
RefSeq ID:NM_001001894
Repeat coordinate:chr21:37073298-37073316 (+)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.053; 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
Malignant neoplasm of breastNM_0010018940.3000UNIPROT
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
37073293
.
AGGTGGC
A
1069.61
21
37073296
.
TGGCGGCGGC
TGGCGGC,TGGCGGCGGCGGC,T,TGGC,TGGCGGCGGCGGCGGCGGC
413168.49
21
37073299
.
C
CGAA
369534.25
21
37073302
.
C
CGGG
7098.06
21
37073314
.
C
CT
33147.63
21
37073315
rs71328547
G
T,GGCT,GCT,GGCTGCT,GGCGGCT,GGCGGCGGCT
10322511.30
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
37073296
.
TGGC
T
.
21
37073296
.
TGGCGGC
T
.
21
37073296
.
TGGCGGCGGC
T
.
21
37073302
.
C
A,T
.
21
37073305
.
C
A,T
.
21
37073308
.
C
A,T
.
21
37073311
.
C
T
.
21
37073311
.
CGGCG
CGGCGGCT
.
21
37073312
.
G
T
.
21
37073312
.
GGCGG
GGCGGCTG
.
21
37073312
.
GGCGGCT
GGCGGCTGCT
.
21
37073312
.
G
GGCT
.
21
37073313
.
GCG
GCGGCT
.
21
37073313
.
GCGGCTGCTGCT
GCGGCTGCTGCTGCT
.
21
37073314
.
CG
CGGCT
.
21
37073315
rs113166620
G
GGCT,T
.
21
37073315
.
GGC
GGCTGC
.
21
37073315
.
GGCT
GGCTGCT
.
21
37073315
.
GGCTGCTGCTGCTGCTG
GGCTGCTGCTGCTGCTGCTG
.
21
37073315
rs16998912
G
GGCGGCT,GGCTGCT,GGCT
.
21
37073316
.
GCT
GCTGCT
.