RGD:329391843 Rat Genome Database

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Variant: RGD:329391843 -  Homo sapiens

RGD ID: 329391843
ClinVar ID: CV2448801
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A32  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 104,413,858
GRCh38 8 103,401,630
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_030780.5:c.698T>C
NG_047200.1:g.18706T>C
NC_000008.11:g.103401630A>G
NC_000008.10:g.104413858A>G
More... 		11/20/2023 missense variant uncertain significance AllHighlyPenetrant; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:SLC25A32
Accession:NM_030780
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTGQGQSASGSSAWSTVFRHVRYENLIAGVSGGVLSNLALHPLDLVKIRFAVSDGLELRPKYNGILHCLTTIWKLDGLRG
LYQGVTPNIWGAGLSWGLYFFFYNAIKSYKTEGRAERLEATEYLVSAAEAGAMTLCITNPLWVTKTRLMLQYDAVVNSPH
RQYKGMFDTLVKIYKYEGVRGLYKGFVPGLFGTSHGALQFMAYELLKLKYNQHINRLPEAQLSTVEYISVAAPSKIFAVA
ATYPYQVVRARLQDQHMFYSGVIDVITKTWRKEGVGGFYKGIAPNLIRVTPACCITFVVYENVSHFLLDLREKRK*

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

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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003561225 CLINVAR
  RCV004261494 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC25A32 CLINVAR
OMIM 138480 CLINVAR