RGD:150463017 Rat Genome Database

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Variant: RGD:150463017 -  Homo sapiens

RGD ID: 150463017
RS ID: rs2487067
ClinVar ID: CV1253745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC29A3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 73,121,645
GRCh38 10 71,361,888
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1318t1:c.774-66C>A
NM_001174098.2:c.*3-66C>A
NM_001363518.2:c.540-66C>A
NM_018344.6:c.774-66C>A
More... 		06/19/2021 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC29A3
Accession:NM_001174098
Location:3UTRS;INTRON

Gene Symbol:SLC29A3
Accession:XM_047425425
Location:INTRON

Gene Symbol:SLC29A3
Accession:XM_047425424
Location:INTRON

Gene Symbol:SLC29A3
Accession:NM_001363518
Location:INTRON

Gene Symbol:SLC29A3
Accession:NM_018344
Location:INTRON

Gene Symbol:SLC29A3
Accession:NR_033413
Location:INTRON;NON-CODING

Gene Symbol:SLC29A3
Accession:NR_033414
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001669787 CLINVAR
  RCV003394200 CLINVAR
dbSNP (RS) rs2487067 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC29A3 CLINVAR
OMIM 612373 CLINVAR