RGD:11609108 Rat Genome Database

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Variant: RGD:11609108 -  Homo sapiens

RGD ID: 11609108
RS ID: rs565178069
ClinVar ID: CV315336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A22  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 796,117
GRCh38 11 796,117
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001191061.2:c.-163-948C>T
NM_024698.6:c.-238C>T
NG_023407.1:g.7153C>T
NC_000011.10:g.796117G>A
More... 		06/14/2016 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A22
Accession:NM_024698
Location:5UTRS;EXON

Gene Symbol:SLC25A22
Accession:XM_047427599
Location:5UTRS;EXON

Gene Symbol:SLC25A22
Accession:XM_047427600
Location:5UTRS;EXON

Gene Symbol:SLC25A22
Accession:XM_011520370
Location:5UTRS;EXON

Gene Symbol:SLC25A22
Accession:XM_024448687
Location:5UTRS;INTRON

Gene Symbol:SLC25A22
Accession:XM_011520371
Location:5UTRS;INTRON

Gene Symbol:SLC25A22
Accession:NM_001191060
Location:5UTRS;INTRON

Gene Symbol:SLC25A22
Accession:XM_047427601
Location:5UTRS;INTRON

Gene Symbol:SLC25A22
Accession:NM_001191061
Location:5UTRS;INTRON

Gene Symbol:SLC25A22
Accession:XM_024448689
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_024448688
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_011520369
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000363786 CLINVAR
dbSNP (RS) rs565178069 CLINVAR
MedGen C0270855 CLINVAR
NCBI Gene SLC25A22 CLINVAR
OMIM 609302 CLINVAR
SNOMED CT 44423001 CLINVAR