RGD:156300563 Rat Genome Database

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Variant: RGD:156300563 -  Homo sapiens

RGD ID: 156300563
ClinVar ID: CV1933455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A24  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 108,679,415
GRCh38 1 108,136,793
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_213651.3:c.1237C>T
NM_013386.5:c.1294C>T
NG_032752.1:g.68566C>T
NC_000001.11:g.108136793G>A
More...
11/08/2022 nonsense likely benign none provided

Gene Symbol:SLC25A24
Accession:NM_013386
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRWLRDFVLPTAACQDAEQPTRYETLFQALDRNGDGVVDIGELQEGLRNLGIPLGQDAEEKIFTTGDVNKDGKLDFEEF
MKYLKDHEKKMKLAFKSLDKNNDGKIEASEIVQSLQTLGLTISEQQAELILQSIDVDGTMTVDWNEWRDYFLFNPVTDIE
EIIRFWKHSTGIDIGDSLTIPDEFTEDEKKSGQWWRQLLAGGIAGAVSRTSTAPLDRLKIMMQVHGSKSDKMNIFGGFRQ
MVKEGGIRSLWRGNGTNVIKIAPETAVKFWAYEQYKKLLTEEGQKIGTFERFISGSMAGATAQTFIYPMEVMKTRLAVGK
TGQYSGIYDCAKKILKHEGLGAFYKGYVPNLLGIIPYAGIDLAVYELLKSYWLDNFAKDSVNPGVMVLLGCGALSSTCGQ
LASYPLALVRTRMQAQAMLEGSPQLNMVGLF*RIISKEGIPGLYRGITPNFMKVLPAVGISYVVYENMKQTLGVTQK*

Gene Symbol:SLC25A24
Accession:NM_213651
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 413
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLYGDLFWYLDYNKDGTLDIFELQEGLEDVGAIQSLEEAKKIFTTGDVNKDGKLDFEEFMKYLKDHEKKMKLAFKSLD
KNNDGKIEASEIVQSLQTLGLTISEQQAELILQSIDVDGTMTVDWNEWRDYFLFNPVTDIEEIIRFWKHSTGIDIGDSLT
IPDEFTEDEKKSGQWWRQLLAGGIAGAVSRTSTAPLDRLKIMMQVHGSKSDKMNIFGGFRQMVKEGGIRSLWRGNGTNVI
KIAPETAVKFWAYEQYKKLLTEEGQKIGTFERFISGSMAGATAQTFIYPMEVMKTRLAVGKTGQYSGIYDCAKKILKHEG
LGAFYKGYVPNLLGIIPYAGIDLAVYELLKSYWLDNFAKDSVNPGVMVLLGCGALSSTCGQLASYPLALVRTRMQAQAML
EGSPQLNMVGLF*RIISKEGIPGLYRGITPNFMKVLPAVGISYVVYENMKQTLGVTQK*

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PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002629225 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A24 CLINVAR
OMIM 608744 CLINVAR