RGD:150407466 Rat Genome Database

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Variant: RGD:150407466 -  Homo sapiens

RGD ID: 150407466
RS ID: rs2147218235
ClinVar ID: CV1195745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GK  GK-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 30,719,023
GRCh38 X 30,700,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001205019.2:c.851+1G>A
NM_203391.4:c.851+1G>A
LRG_848:g.52548G>A
LRG_848t1:c.851+1G>A
More... 		05/22/2020 non-coding transcript variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:GK-AS1
Accession:NR_046603
Location:EXON;NON-CODING

Gene Symbol:GK
Accession:NM_001205019
Location:INTRON

Gene Symbol:GK
Accession:NM_203391
Location:INTRON

Gene Symbol:GK
Accession:NM_001128127
Location:INTRON

Gene Symbol:GK
Accession:NM_000167
Location:INTRON

Gene Symbol:GK
Accession:XM_006724483
Location:INTRON

Gene Symbol:GK
Accession:XM_011545491
Location:INTRON

Gene Symbol:GK
Accession:XM_011545492
Location:INTRON

Gene Symbol:GK
Accession:NM_001399987
Location:INTRON

Gene Symbol:GK
Accession:NR_174369
Location:INTRON;NON-CODING

Gene Symbol:GK
Accession:NR_174370
Location:INTRON;NON-CODING

Gene Symbol:GK
Accession:NR_174373
Location:INTRON;NON-CODING

Gene Symbol:GK
Accession:NR_174371
Location:INTRON;NON-CODING

Gene Symbol:GK
Accession:NR_174374
Location:INTRON;NON-CODING

Gene Symbol:GK
Accession:NR_174372
Location:INTRON;NON-CODING

Gene Symbol:GK
Accession:NR_174375
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001572351 CLINVAR
dbSNP (RS) rs2147218235 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GK CLINVAR
  GK-AS1 CLINVAR
OMIM 300474 CLINVAR