RGD:405039185 Rat Genome Database

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Variant: RGD:405039185 -  Homo sapiens

RGD ID: 405039185
ClinVar ID: CV3067813
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A24  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 108,703,852
GRCh38 1 108,161,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_213651.3:c.405T>G
NM_013386.5:c.462T>G
NG_032752.1:g.44129T>G
NC_000001.11:g.108161230A>C
More...
01/31/2024 missense variant uncertain significance none provided

Gene Symbol:SLC25A24
Accession:NM_013386
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRWLRDFVLPTAACQDAEQPTRYETLFQALDRNGDGVVDIGELQEGLRNLGIPLGQDAEEKIFTTGDVNKDGKLDFEEF
MKYLKDHEKKMKLAFKSLDKNNDGKIEASEIVQSLQTLGLTISEQQAELILQSIDVDGTMTVDWNEWRDYFLFKPVTDIE
EIIRFWKHSTGIDIGDSLTIPDEFTEDEKKSGQWWRQLLAGGIAGAVSRTSTAPLDRLKIMMQVHGSKSDKMNIFGGFRQ
MVKEGGIRSLWRGNGTNVIKIAPETAVKFWAYEQYKKLLTEEGQKIGTFERFISGSMAGATAQTFIYPMEVMKTRLAVGK
TGQYSGIYDCAKKILKHEGLGAFYKGYVPNLLGIIPYAGIDLAVYELLKSYWLDNFAKDSVNPGVMVLLGCGALSSTCGQ
LASYPLALVRTRMQAQAMLEGSPQLNMVGLFRRIISKEGIPGLYRGITPNFMKVLPAVGISYVVYENMKQTLGVTQK*

Gene Symbol:SLC25A24
Accession:NM_213651
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLYGDLFWYLDYNKDGTLDIFELQEGLEDVGAIQSLEEAKKIFTTGDVNKDGKLDFEEFMKYLKDHEKKMKLAFKSLD
KNNDGKIEASEIVQSLQTLGLTISEQQAELILQSIDVDGTMTVDWNEWRDYFLFKPVTDIEEIIRFWKHSTGIDIGDSLT
IPDEFTEDEKKSGQWWRQLLAGGIAGAVSRTSTAPLDRLKIMMQVHGSKSDKMNIFGGFRQMVKEGGIRSLWRGNGTNVI
KIAPETAVKFWAYEQYKKLLTEEGQKIGTFERFISGSMAGATAQTFIYPMEVMKTRLAVGKTGQYSGIYDCAKKILKHEG
LGAFYKGYVPNLLGIIPYAGIDLAVYELLKSYWLDNFAKDSVNPGVMVLLGCGALSSTCGQLASYPLALVRTRMQAQAML
EGSPQLNMVGLFRRIISKEGIPGLYRGITPNFMKVLPAVGISYVVYENMKQTLGVTQK*

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PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003739780 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A24 CLINVAR
OMIM 608744 CLINVAR