RGD:405238800 Rat Genome Database

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Variant: RGD:405238800 -  Homo sapiens

RGD ID: 405238800
ClinVar ID: CV3165779
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DGUOK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 74,174,042
GRCh38 2 73,946,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318862.2:c.134+27C>T
NM_001318863.2:c.134+27C>T
NM_001318860.2:c.152+9C>T
NM_001318861.2:c.152+9C>T
More... 		01/24/2024 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DGUOK
Accession:NM_080916
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_080918
Location:INTRON

Gene Symbol:DGUOK
Accession:XM_011532647
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318861
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318862
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318859
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318860
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318863
Location:INTRON

Gene Symbol:DGUOK
Accession:XM_047443587
Location:INTRON

Gene Symbol:DGUOK
Accession:XM_047443585
Location:INTRON

Gene Symbol:DGUOK
Accession:NR_134897
Location:INTRON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134894
Location:INTRON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134898
Location:INTRON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134893
Location:INTRON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134896
Location:INTRON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134895
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003866791 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DGUOK CLINVAR
OMIM 601465 CLINVAR