RGD:405274263 Rat Genome Database

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Variant: RGD:405274263 -  Homo sapiens

RGD ID: 405274263
ClinVar ID: CV3192065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127460100  SLC25A32  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 104,427,037
GRCh38 8 103,414,809
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_015420.6:c.-182G>A
NM_030780.5:c.129C>T
NG_114869.2:g.137G>A
NG_047200.1:g.5527C>T
More...
09/17/2019 non-coding transcript variant likely benign SLC25A32-related condition

Gene Symbol:SLC25A32
Accession:NM_030780
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTGQGQSASGSSAWSTVFRHVRYENLIAGVSGGVLSNLALHPLDLVKIRFAVSDGLELRPKYNGILHCLTTIWKLDGLRG
LYQGVTPNIWGAGLSWGLYFFFYNAIKSYKTEGRAERLEATEYLVSAAEAGAMTLCITNPLWVTKTRLMLQYDAVVNSPH
RQYKGMFDTLVKIYKYEGVRGLYKGFVPGLFGTSHGALQFMAYELLKLKYNQHINRLPEAQLSTVEYISVAALSKIFAVA
ATYPYQVVRARLQDQHMFYSGVIDVITKTWRKEGVGGFYKGIAPNLIRVTPACCITFVVYENVSHFLLDLREKRK*

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

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

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Database
Acc Id
Source(s)
ClinVar RCV003923988 CLINVAR
NCBI Gene SLC25A32 CLINVAR
OMIM 138480 CLINVAR