rs150195740 Rat Genome Database

rs150195740 Rat Genome Database

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Variant: rs150195740 - Homo sapiens

RGD ID:

15175506

RS ID:

rs150195740

ClinVar ID:

CV718059

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	1	108,690,906
GRCh38	1	108,148,284

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_213651.3:c.868A>G NM_013386.5:c.925A>G NG_032752.1:g.57075A>G NC_000001.11:g.108148284T>C More...	04/07/2018	missense variant	likely benign	none provided

Gene Symbol:	SLC25A24
Accession:	NM_013386
Location:	EXON
Amino Acid Prediction:	M to V (nonsynonymous)
Amino Acid Position:	309

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRWLRDFVLPTAACQDAEQPTRYETLFQALDRNGDGVVDIGELQEGLRNLGIPLGQDAEEKIFTTGDVNKDGKLDFEEF MKYLKDHEKKMKLAFKSLDKNNDGKIEASEIVQSLQTLGLTISEQQAELILQSIDVDGTMTVDWNEWRDYFLFNPVTDIE EIIRFWKHSTGIDIGDSLTIPDEFTEDEKKSGQWWRQLLAGGIAGAVSRTSTAPLDRLKIMMQVHGSKSDKMNIFGGFRQ MVKEGGIRSLWRGNGTNVIKIAPETAVKFWAYEQYKKLLTEEGQKIGTFERFISGSMAGATAQTFIYPVEVMKTRLAVGK TGQYSGIYDCAKKILKHEGLGAFYKGYVPNLLGIIPYAGIDLAVYELLKSYWLDNFAKDSVNPGVMVLLGCGALSSTCGQ LASYPLALVRTRMQAQAMLEGSPQLNMVGLFRRIISKEGIPGLYRGITPNFMKVLPAVGISYVVYENMKQTLGVTQK*

Gene Symbol:	SLC25A24
Accession:	NM_213651
Location:	EXON
Amino Acid Prediction:	M to V (nonsynonymous)
Amino Acid Position:	290

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSLYGDLFWYLDYNKDGTLDIFELQEGLEDVGAIQSLEEAKKIFTTGDVNKDGKLDFEEFMKYLKDHEKKMKLAFKSLD KNNDGKIEASEIVQSLQTLGLTISEQQAELILQSIDVDGTMTVDWNEWRDYFLFNPVTDIEEIIRFWKHSTGIDIGDSLT IPDEFTEDEKKSGQWWRQLLAGGIAGAVSRTSTAPLDRLKIMMQVHGSKSDKMNIFGGFRQMVKEGGIRSLWRGNGTNVI KIAPETAVKFWAYEQYKKLLTEEGQKIGTFERFISGSMAGATAQTFIYPVEVMKTRLAVGKTGQYSGIYDCAKKILKHEG LGAFYKGYVPNLLGIIPYAGIDLAVYELLKSYWLDNFAKDSVNPGVMVLLGCGALSSTCGQLASYPLALVRTRMQAQAML EGSPQLNMVGLFRRIISKEGIPGLYRGITPNFMKVLPAVGISYVVYENMKQTLGVTQK*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000884383	CLINVAR
dbSNP (RS)	rs150195740	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	SLC25A24	CLINVAR
OMIM	608744	CLINVAR