General information of RDP00607
Gene Symbol:PTCSC1
RefSeq ID:NR_146773
Repeat coordinate:chr8:133055824-133055872 (+)
Repeat size:16
Repeat region:exon
Repeat unit:CAG
Repeat conservation:PhastCons_score: 0.033; 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 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
133055824
.
CCAGCAGCAGCAGCAGCAGCAG
C
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
133055824
rs764770915
CCAGCAGCAGCAGCAGCAGCAGCAGCAG
CCAGCAG,CCAG,C,CCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAG
17575700.74
8
133055829
.
A
G
14730463.40
8
133055831
.
CAGCAGCAGCAGCAGCAGCA
C
14724058.55
8
133055834
.
CA
C
14722565.81
8
133055837
.
C
A
14719579.03
8
133055838
.
AGCAGCAGCAGCAGCAGCAGC
A
14719716.88
8
133055840
.
CAG
C
14717360.19
8
133055843
.
C
G
14714375.45
8
133055844
.
AGCAGCAGCAGCAGCAGCAGC
A
14714360.76
8
133055845
rs750506936
GC
G
14715375.42
8
133055847
.
AGCAGCAGCAGCAGCAGCAGC
A
7807189.76
8
133055857
.
G
C
4701.32
8
133055866
.
G
GCAA
2835.38
8
133055869
.
G
T
972.43
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
133055824
.
CCAG
C
.
8
133055824
rs59475951
CCAGCAGCAGCAGCAGCAGCAG
CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAG,C
.
8
133055824
rs796199261
CCAGCAGCAGCAGCAGCAGCAGCAG
CCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAG,C
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCA
CA
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAG
CAG,CAGCAG
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGC
CAGC,CAGCAGC
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAG
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCA
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAGCAGCAGCAG
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCAGCAGCAGCAGCA
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
CAGCAGCAGCAGCAGCAGCAGC
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCAGCAGCAGCAGCA
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
CAGCAGCAGCAGCAGCAGCAGC
.
8
133055842
.
G
T
.
8
133055845
rs750506936
G
C,T
.
8
133055848
rs767568225
G
C
.
8
133055851
rs376246674
G
GGGCGCA
.
8
133055852
.
C
G
.
8
133055853
.
A
G
.