General information of RDP00342
Gene Symbol:HOXD11
RefSeq ID:NM_021192
Repeat coordinate:chr2:176107677-176107695 (+)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.905; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:AAAAA
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
Mammary Carcinoma, HumanNM_0211920.3010CTD_human
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
176107676
.
CGCG
C,CGCGGCGGCG
19821.28
2
176107690
.
C
T
125.26
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
176107676
.
CGCGGCGGCG
CGCGGCG,CGCG,CGCGGCGGCGGCGGCG,C,CGCGGCGGCGGCG
39095.18
2
176107682
.
G
T
2444.05
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
176107691
rs35035619
G
GGCGGCT
.