RGD:14717236 Rat Genome Database

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Variant: RGD:14717236 -  Homo sapiens

RGD ID: 14717236
RS ID: rs2239963
ClinVar ID: CV670702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UPF3B  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 118,969,075
GRCh38 X 119,835,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_080632.3:c.1303-85T>G
NG_009241.1:g.22894T>G
NC_000023.11:g.119835112A>C
NC_000023.10:g.118969075A>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UPF3B
Accession:XM_017029738
Location:INTRON

Gene Symbol:UPF3B
Accession:NM_080632
Location:INTRON

Gene Symbol:UPF3B
Accession:XM_017029740
Location:INTRON

Gene Symbol:UPF3B
Accession:XM_017029739
Location:INTRON

Gene Symbol:UPF3B
Accession:XM_017029737
Location:INTRON

Gene Symbol:UPF3B
Accession:NM_023010
Location:INTRON

Gene Symbol:UPF3B
Accession:XM_047442375
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000829998 CLINVAR
dbSNP (RS) rs2239963 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UPF3B CLINVAR
OMIM 300298 CLINVAR