General information of RDP00169
Gene Symbol:PCMTD2
RefSeq ID:NM_001104925
Repeat coordinate:chr20:64255725-64255749 (+)
Repeat size:8
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.494; 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
20
64255727
.
G
GGCGGCT
44686.75
20
64255728
.
G
C
44682.34
20
64255729
.
C
T
45313.07
20
64255731
.
G
C
36960.31
20
64255732
.
C
G,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGATGTT
112666.27
20
64255735
.
C
G
567.13
20
64255738
.
C
CGGCGGCGGT
439.62
20
64255742
.
G
A
399.46
20
64255743
.
G
C
257.56
20
64255744
.
C
CGGCGGCGGA
3272.59
20
64255745
.
G
GGCC
429.50
20
64255749
.
GATGTTTA
G
888.78
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
64255723
.
AGGCGGCGGC
A,AGGCGGCGGG
.
20
64255730
.
G
A
.
20
64255732
.
C
G
.
20
64255734
rs111436961
G
C
.
20
64255744
.
C
CGGCGGA,CG
.
20
64255747
.
C
CG
.