RGD:21069037 Rat Genome Database

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Variant: RGD:21069037 -  Homo sapiens

RGD ID: 21069037
RS ID: rs1001728355
ClinVar ID: CV795566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A4  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 186,066,261
GRCh38 4 185,145,107
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001151.4:c.455G>T
NG_013001.1:g.6845G>T
NC_000004.12:g.185145107G>T
NC_000004.11:g.186066261G>T
More... 		03/01/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC25A4
Accession:NM_001151
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQISAEKQYKGIIDCVVRIPKEQGFLSFWRGNLANVIR
YFPTQALNFAFKDKYKQLFLGGVDRHKQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKGAAQLEFHGLGDC
IIKIFKSDGLRGLYQGFNVSVQGIIIYRAAYFGVYDTAKGMLPDPKNVHIFVSWMIAQSVTAVAGLVSYPFDTVRRRMMM
QSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000998326 CLINVAR
dbSNP (RS) rs1001728355 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A4 CLINVAR
OMIM 103220 CLINVAR