rs1347930503 Rat Genome Database

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Variant: rs1347930503 -  Homo sapiens

RGD ID: 150536646
RS ID: rs1347930503
ClinVar ID: CV1297020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHX30  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 47,890,045
GRCh38 3 47,848,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_138615.3:c.2575+5G>A
NC_000003.12:g.47848555G>A
NC_000003.11:g.47890045G>A
NM_014966.4:c.2458+5G>A
More... 		03/31/2019 intron variant uncertain significance none provided

Gene Symbol:DHX30
Accession:NM_001330990
Location:INTRON

Gene Symbol:DHX30
Accession:XM_006713033
Location:INTRON

Gene Symbol:DHX30
Accession:XM_011533494
Location:INTRON

Gene Symbol:DHX30
Accession:XM_024453405
Location:INTRON

Gene Symbol:DHX30
Accession:XM_047447728
Location:INTRON

Gene Symbol:DHX30
Accession:XM_047447729
Location:INTRON

Gene Symbol:DHX30
Accession:NM_138615
Location:INTRON

Gene Symbol:DHX30
Accession:NM_014966
Location:INTRON

Gene Symbol:DHX30
Accession:XM_047447727
Location:INTRON

Gene Symbol:DHX30
Accession:NR_075079
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV001763311 CLINVAR
dbSNP (RS) rs1347930503 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DHX30 CLINVAR
OMIM 616423 CLINVAR