RGD:11592998 Rat Genome Database

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Variant: RGD:11592998 -  Homo sapiens

RGD ID: 11592998
ClinVar ID: CV285762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A12  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 172,640,623
GRCh38 2 171,784,113
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003705.5:c.*1161T>C
NG_011781.1:g.115191T>C
NC_000002.12:g.171784113A>G
NC_000002.11:g.172640623A>G
More... 		06/14/2016 3 prime utr variant likely benign EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39

Variant Details
Variant Transcripts
Gene Symbol:SLC25A12
Accession:NM_003705
Location:3UTRS;EXON

Gene Symbol:SLC25A12
Accession:XM_047446142
Location:3UTRS;EXON

Gene Symbol:SLC25A12
Accession:NR_047549
Location:EXON;NON-CODING

Variant Samples