General information of RDP00418
Gene Symbol:PPP2R5C
RefSeq ID:NM_001352914
Repeat coordinate:chr14:101761688-101761715 (+)
Repeat size:9
Repeat region:intron
Repeat unit:CCG
Repeat conservation:PhastCons_score: 0.027; 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
Familial Nonmedullary Thyroid CancerNM_0013529140.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761677
.
ACGCCGCCGCTGC
ACGCCGCCGCCGCTGC,ACGCCGCCGCTGCCGCCGCCGCTGC,ACGCCGCCGCTGCCGCCGCCGCCGCTGC,ACGCCGCCGCTGCCGCCGCCGCCGCCGCTGC,A
2609.22
14
101761687
.
TGCCGCCGCCGCC
TGCCGCCGCC,TGCCGCC,TGCCGCCGCCGCCGCCGCC,T,TGCCGCCGCCGCCGCC,CGCCGCCGCCGCC
112172.32
14
101761689
.
C
T
62447.74
14
101761690
.
C
T
60648.39
14
101761699
.
C
T
51639.78
14
101761708
.
C
T
398.33
14
101761713
.
C
CCGT
1060.64
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
101761687
.
TGCCGCCGCCGCC
T
.
14
101761699
.
C
T
.