RGD:8637344 Rat Genome Database

RGD:8637344 Rat Genome Database

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Variant: RGD:8637344 - Homo sapiens

RGD ID:

8637344

ClinVar ID:

CV92570

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	20	45,224,874
GRCh38	20	46,596,235

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001193342.1:c.422C>T NM_001011554.2:c.575C>T NM_001193340.1:c.575C>T NM_001193339.1:c.649C>T More...		missense\|missense variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	SLC13A3
Accession:	NM_001193340
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVYWCTEALPLSVTALLPIVLFPFMGILPSNKVCPQYFLDTNFLFLSGLIMASAIEEWNLHRRIALKILMLVGVQPARL ILGMMVTTSFLSMWLSNTASTAMMLPIANAILKSLFGQKEVRKDPSQESEENTAAVRRNGLHTVPTEMQFLASTEAKDHP GETEVPLDLPADSRKEDEYRRNIWKGFLISILYSASIGGTATLTGTAPNLILLGQLKSFFPQCDVVNFGSWFIFAFPLML LFLLAGWLWISFLYGGLSFRGWRKNKSEIRTNAEDRARAVIREEYQNLGPIKFLSDAVTGVAIVTILFFFPSQRPSLKWW FDFKAPNTETEPLLTWKKAQETVPWNIILLLGGGFAMAKGCEESGLSVWIGGQLHPLENVPPALAVLLITVVIAFFTEFA SNTATIIIFLPVLAELAIRLRVHPLYLMIPGTVGCSFAFMLPVSTPPNSIAFASGHLLVKDMVRTGLLMNLMGVLLLSLA MNTWAQTIFQLGTFPDWADMYSVNVTALPPTLANDTFRTL*

Gene Symbol:	SLC13A3
Accession:	NM_001193339
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAALAAAAKKVWSARRLLVLLFTPLALLPVVFALPPKEGRCLFVILLMAVYWCTEALPLSVTALLPIVLFPFMGILPSNK VCPQYFLDTNFLFLSGLIMASAIEEWNLHRRIALKILMLVGVQPARLILGMMVTTSFLSMWLSNTASTAMMLPIANAILK SLFGQKEVRKDPSQESEENTAKTTLGRQRFHWICRLTPGRRMNIVGTSGRASSSPSSTQPVLGAQPHSRAQPLTSSCLAS SRGWLWISFLYGGLSFRGWRKNKSEIRTNAEDRARAVIREEYQNLGPIKFAEQAVFILFCMFAILLFTRDPKFIPGWASL FNPGFLSDAVTGVAIVTILFFFPSQRPSLKWWFDFKAPNTETEPLLTWKKAQETVPWNIILLLGGGFAMAKGCEESGLSV WIGGQLHPLENVPPALAVLLITVVIAFFTEFASNTATIIIFLPVLAELAIRLRVHPLYLMIPGTVGCSFAFMLPVSTPPN SIAFASGHLLVKDMVRTGLLMNLMGVLLLSLAMNTWAQTIFQLGTFPDWADMYSVNVTALPPTLANDTFRTL*

Gene Symbol:	SLC13A3
Accession:	NM_001011554
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVYWCTEALPLSVTALLPIVLFPFMGILPSNKVCPQYFLDTNFLFLSGLIMASAIEEWNLHRRIALKILMLVGVQPARL ILGMMVTTSFLSMWLSNTASTAMMLPIANAILKSLFGQKEVRKDPSQESEENTAAVRRNGLHTVPTEMQFLASTEAKDHP GETEVPLDLPADSRKEDEYRRNIWKGFLISILYSASIGGTATLTGTAPNLILLGQLKSFFPQCDVVNFGSWFIFAFPLML LFLLAGWLWISFLYGGLSFRGWRKNKSEIRTNAEDRARAVIREEYQNLGPIKFAEQAVFILFCMFAILLFTRDPKFIPGW ASLFNPGFLSDAVTGVAIVTILFFFPSQRPSLKWWFDFKAPNTETEPLLTWKKAQETVPWNIILLLGGGFAMAKGCEESG LSVWIGGQLHPLENVPPALAVLLITVVIAFFTEFASNTATIIIFLPVLAELAIRLRVHPLYLMIPGTVGCSFAFMLPVST PPNSIAFASGHLLVKDMVRTGLLMNLMGVLLLSLAMNTWAQTIFQLGTFPDWADMYSVNVTALPPTLANDTFRTL*

Gene Symbol:	SLC13A3
Accession:	NM_022829
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	239

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAALAAAAKKVWSARRLLVLLFTPLALLPVVFALPPKEGRCLFVILLMAVYWCTEALPLSVTALLPIVLFPFMGILPSNK VCPQYFLDTNFLFLSGLIMASAIEEWNLHRRIALKILMLVGVQPARLILGMMVTTSFLSMWLSNTASTAMMLPIANAILK SLFGQKEVRKDPSQESEENTAAVRRNGLHTVPTEMQFLASTEAKDHPGETEVPLDLPADSRKEDEYRRNIWKGFLISILY SASIGGTATLTGTAPNLILLGQLKSFFPQCDVVNFGSWFIFAFPLMLLFLLAGWLWISFLYGGLSFRGWRKNKSEIRTNA EDRARAVIREEYQNLGPIKFAEQAVFILFCMFAILLFTRDPKFIPGWASLFNPGFLSDAVTGVAIVTILFFFPSQRPSLK WWFDFKAPNTETEPLLTWKKAQETVPWNIILLLGGGFAMAKGCEESGLSVWIGGQLHPLENVPPALAVLLITVVIAFFTE FASNTATIIIFLPVLAELAIRLRVHPLYLMIPGTVGCSFAFMLPVSTPPNSIAFASGHLLVKDMVRTGLLMNLMGVLLLS LAMNTWAQTIFQLGTFPDWADMYSVNVTALPPTLANDTFRTL*

Gene Symbol:	SLC13A3
Accession:	NM_001193342
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	141

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASAIEEWNLHRRIALKILMLVGVQPARLILGMMVTTSFLSMWLSNTASTAMMLPIANAILKSLFGQKEVRKDPSQESEE NTAAVRRNGLHTVPTEMQFLASTEAKDHPGETEVPLDLPADSRKEDEYRRNIWKGFLISILYSASIGGTATLTGTAPNLI LLGQLKSFFPQCDVVNFGSWFIFAFPLMLLFLLAGWLWISFLYGGLSFRGWRKNKSEIRTNAEDRARAVIREEYQNLGPI KFAEQAVFILFCMFAILLFTRDPKFIPGWASLFNPGFLSDAVTGVAIVTILFFFPSQRPSLKWWFDFKAPNTETEPLLTW KKAQETVPWNIILLLGGGFAMAKGCEESGLSVWIGGQLHPLENVPPALAVLLITVVIAFFTEFASNTATIIIFLPVLAEL AIRLRVHPLYLMIPGTVGCSFAFMLPVSTPPNSIAFASGHLLVKDMVRTGLLMNLMGVLLLSLAMNTWAQTIFQLGTFPD WADMYSVNVTALPPTLANDTFRTL*

Variant Samples