RGD:10410134 Rat Genome Database

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Variant: RGD:10410134 -  Homo sapiens

RGD ID: 10410134
RS ID: rs375855227
ClinVar ID: CV211023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A4  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 186,066,305
GRCh38 4 185,145,151
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013001.1:g.6889T>A
NC_000004.12:g.185145151T>A
NC_000004.11:g.186066305T>A
NP_001142.2:p.Ser167Thr
More... 		02/02/2015 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SLC25A4
Accession:NM_001151
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQISAEKQYKGIIDCVVRIPKEQGFLSFWRGNLANVIR
YFPTQALNFAFKDKYKQLFLGGVDRHKQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKGAAQREFHGLGDC
IIKIFKTDGLRGLYQGFNVSVQGIIIYRAAYFGVYDTAKGMLPDPKNVHIFVSWMIAQSVTAVAGLVSYPFDTVRRRMMM
QSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000197567 CLINVAR
dbSNP (RS) rs375855227 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SLC25A4 CLINVAR
OMIM 103220 CLINVAR