rs750179976 Rat Genome Database

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Variant: rs750179976 -  Homo sapiens

RGD ID: 15134774
RS ID: rs750179976
ClinVar ID: CV774722
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFU1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 69,633,147
GRCh38 2 69,406,015
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374284.1:c.473+7G>T
NM_015700.4:c.473+7G>T
NM_001002755.4:c.545+7G>T
NG_031931.1:g.36614G>T
More... 		05/23/2022 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NFU1
Accession:NM_001002755
Location:INTRON

Gene Symbol:NFU1
Accession:XM_047443939
Location:INTRON

Gene Symbol:NFU1
Accession:NM_001002756
Location:INTRON

Gene Symbol:NFU1
Accession:NM_015700
Location:INTRON

Gene Symbol:NFU1
Accession:NM_001374284
Location:INTRON

Gene Symbol:NFU1
Accession:NR_045631
Location:INTRON;NON-CODING

Gene Symbol:NFU1
Accession:NR_045632
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002544592 CLINVAR
dbSNP (RS) rs750179976 CLINVAR
MedGen C3276432 CLINVAR
NCBI Gene NFU1 CLINVAR
OMIM 605711 CLINVAR
  608100 CLINVAR