RGD:156164627 Rat Genome Database

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Variant: RGD:156164627 -  Homo sapiens

RGD ID: 156164627
ClinVar ID: CV2137047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A32  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 104,412,764
GRCh38 8 103,400,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_030780.5:c.823G>A
NG_047200.1:g.19800G>A
NC_000008.11:g.103400536C>T
NC_000008.10:g.104412764C>T
More... 		03/06/2023 missense variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:SLC25A32
Accession:NM_030780
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTGQGQSASGSSAWSTVFRHVRYENLIAGVSGGVLSNLALHPLDLVKIRFAVSDGLELRPKYNGILHCLTTIWKLDGLRG
LYQGVTPNIWGAGLSWGLYFFFYNAIKSYKTEGRAERLEATEYLVSAAEAGAMTLCITNPLWVTKTRLMLQYDAVVNSPH
RQYKGMFDTLVKIYKYEGVRGLYKGFVPGLFGTSHGALQFMAYELLKLKYNQHINRLPEAQLSTVEYISVAALSKIFAVA
ATYPYQVVRARLQDQHMFYSGVIDVITKTWRKEGIGGFYKGIAPNLIRVTPACCITFVVYENVSHFLLDLREKRK*

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

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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003005194 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A32 CLINVAR
OMIM 138480 CLINVAR