RGD:13801498 Rat Genome Database

RGD ID:

13801498

RS ID:

rs747247810

ClinVar ID:

CV576809

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	36,677,039
GRCh38	5	36,676,937

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_004163.3:p.Ala205Thr NG_015890.1:g.75583G>A NC_000005.9:g.36677039G>A NP_001276868.1:p.Ala159Thr More...	08/16/2022	intron variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	SLC1A3
Accession:	XM_047417539
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIVGTILGFTLRPYRMSYREVKY FSFPGELLMRMLQMLVLPLIISSLVTGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGK IVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQTNETLVGAVINNVSEAMETLTRITEELVPVPGSVNG VNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEMEDMGVIGGQLAMYTVT VIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMD GTALYEALAAIFIAQVNNFELNFGQIITIRDRLRTTTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQL IAQDNETEKPIDSETKM*

Gene Symbol:	SLC1A3
Accession:	NM_004172
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIVGTILGFTLRPYRMSYREVKY FSFPGELLMRMLQMLVLPLIISSLVTGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGK IVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQTNETLVGAVINNVSEAMETLTRITEELVPVPGSVNG VNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEMEDMGVIGGQLAMYTVT VIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMD GTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRT TTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQLIAQDNETEKPIDSETKM*

Gene Symbol:	SLC1A3
Accession:	NM_001166695
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIVGTILGFTLRPYRMSYREVKY FSFPGELLMRMLQMLVLPLIISSLVTGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGK IVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQTNETLVGAVINNVSEAMETLTRITEELVPVPGSVNG VNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEMEDMGVIGGQLAMYTVT VIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMD GTALYEALAAIFIAQVNNFELNFGQIITIRDRLRTTTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQL IAQDNETEKPIDSETKM*

Gene Symbol:	SLC1A3
Accession:	NM_001289939
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	159

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIVGMAALDSKASGKMGMRAVVY YMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQTN ETLVGAVINNVSEAMETLTRITEELVPVPGSVNGVNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIM WYAPVGILFLIAGKIVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSS ATLPITFKCLEENNGVDKRVTRFVLPVGATINMDGTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQA GLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRTTTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQLI AQDNETEKPIDSETKM*

Gene Symbol:	SLC1A3
Accession:	XM_005248342
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIVGTILGFTLRPYRMSYREVKY FSFPGELLMRMLQMLVLPLIISSLVTGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGK IVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQTNETLVGAVINNVSEAMETLTRITEELVPVPGSVNG VNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEMEDMGVIGGQLAMYTVT VIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMD GTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRT TTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQLIAQDNETEKPIDSETKM*

Gene Symbol:	SLC1A3
Accession:	XM_047417540
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPPNLVEACF KQFKTNYEKRSFKVPIQTNETLVGAVINNVSEAMETLTRITEELVPVPGSVNGVNALGLVVFSMCFGFVIGNMKEQGQAL REFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWV FIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMDGTALYEALAAIFIAQVNNFELNFGQII TISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRTTTNVLGDSLGAGIVEHLSRHELKNRDV EMGNSVIEENEMKKPYQLIAQDNETEKPIDSETKM*

Variant Samples

Additional References at PubMed

PMID:26467025	PMID:28492532

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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