RGD:15129061 Rat Genome Database

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Variant: RGD:15129061 -  Homo sapiens

RGD ID: 15129061
RS ID: rs746726936
ClinVar ID: CV781916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 186,066,977
GRCh38 4 185,145,823
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.11:g.186066977G>A
NM_001151.4:c.663G>A
NG_013001.1:g.7561G>A
NC_000004.12:g.185145823G>A
More... 		12/26/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC25A4
Accession:NM_001151
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQISAEKQYKGIIDCVVRIPKEQGFLSFWRGNLANVIR
YFPTQALNFAFKDKYKQLFLGGVDRHKQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKGAAQREFHGLGDC
IIKIFKSDGLRGLYQGFNVSVQGIIIYRAAYFGVYDTAKGMLPDPKNVHIFVSWMIAQSVTAVAGLVSYPFDTVRRRMMM
QSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000980816 CLINVAR
dbSNP (RS) rs746726936 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A4 CLINVAR
OMIM 103220 CLINVAR