General information of RDP00129
Gene Symbol:SGSM2
RefSeq ID:NM_001098509
Repeat coordinate:chr17:2337549-2337570 (+)
Repeat size:7
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.514; 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
2337548
rs536747389
TGCGGCG
TGCG,TGCGGCGGCG,T
292341.39
17
2337566
.
G
A
558.67
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
2337548
.
TGCG
T
.
17
2337548
.
TGCG
T
.
17
2337551
rs577044048
G
A
.
17
2337562
.
C
G
.