General information of RDP00132
Gene Symbol:PITPNC1
RefSeq ID:NM_012417
Repeat coordinate:chr17:67377496-67377514 (+)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.551; 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 gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
67377495
rs556409374
AGCGGCGGCG
AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG,AGCGGCG,A
105252.87
17
67377513
.
G
C
6661.02
17
67377514
.
G
A
435.47
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
67377495
.
AGCG
A
.
17
67377495
.
AGCG
A,AGCGGCG
.
17
67377497
rs541527220
C
A
.
17
67377500
.
C
CG
.
17
67377512
.
C
CG
.
17
67377513
.
G
C,GG
.