RGD:11049633 Rat Genome Database

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Variant: RGD:11049633 -  Homo sapiens

RGD ID: 11049633
RS ID: rs147014855
ClinVar ID: CV224832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A32  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 104,415,519
GRCh38 8 103,403,291
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.103403291C>T
NC_000008.10:g.104415519C>T
NG_047200.1:g.17045G>A
NR_102337.2:n.509G>A
More... 		08/04/2022 non-coding transcript variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A32
Accession:NM_030780
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTGQGQSASGSSAWSTVFRHVRYENLIAGVSGGVLSNLALHPLDLVKIRFAVSDGLELRPKYNGILHCLTTIWKLDGLRG
LYQGVTPNIWGAGLSWGLYFFFYNAIKSYKTEGRAERLEATEYLVSAAEAGAMTLCITNPL*VTKTRLMLQYDAVVNSPH
RQYKGMFDTLVKIYKYEGVRGLYKGFVPGLFGTSHGALQFMAYELLKLKYNQHINRLPEAQLSTVEYISVAALSKIFAVA
ATYPYQVVRARLQDQHMFYSGVIDVITKTWRKEGVGGFYKGIAPNLIRVTPACCITFVVYENVSHFLLDLREKRK*

Gene Symbol:SLC25A32
Accession:NR_102337
Location:EXON;NON-CODING

Gene Symbol:SLC25A32
Accession:NR_102338
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:26933868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000208744 CLINVAR
  RCV002517412 CLINVAR
dbSNP (RS) rs147014855 CLINVAR
MedGen C3661900 CLINVAR
  C4225187 CLINVAR
NCBI Gene SLC25A32 CLINVAR
OMIM 138480 CLINVAR
  616839 CLINVAR
OMIM Allele 138480.0001 CLINVAR