RGD:14395676 Rat Genome Database

RGD ID:

14395676

ClinVar ID:

CV611402

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	4,573,999
GRCh38	9	4,573,999

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_004170.6:c.860C>G NG_017044.1:g.88573C>G NC_000009.12:g.4573999C>G NC_000009.11:g.4573999C>G More...	05/03/2016	missense variant	likely benign	Glutamate-aspartate transport defect; Schizophrenia 18

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	SLC1A1
Accession:	NM_004170
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	287

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGKPARKGCEWKRFLKNNWVLLSTVAAVVLGITTGVLVREHSNLSTLEKFYFAFPGEILMRMLKLIILPLIISSMITGVA ALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGVTQKVGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQ QYKTKREEVKPPSDPEMNMTEESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIVFCLVFGLVIGKMGEKGQILVDFF NALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMGTVLTGLAIHSIVILPLIYFIVVRKNPFRFAMGM AQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLPVGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITISIT ATSASIGAAGVPQAGLVTMVIVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIVEKLSKKELEQMDVSSEVN IVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF*

Gene Symbol:	SLC1A1
Accession:	XM_011518007
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	310

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGKPARKGCEWKRFLKNNWVLLSTVAAVVLDCKPHGDPDHMSSTELSKVVVCTGITTGVLVREHSNLSTLEKFYFAFPGE ILMRMLKLIILPLIISSMITGVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGVTQKVGEIARTGSTPEVS TVDAMLDLIRNMFPENLVQACFQQYKTKREEVKPPSDPEMNMTEESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIV FCLVFGLVIGKMGEKGQILVDFFNALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMGTVLTGLAIHS IVILPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLPVGATINMDGTALYEAVA AVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMVIVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAF GTGIVEKLSKKELEQMDVSSEVNIVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF*

Gene Symbol:	SLC1A1
Accession:	XM_011518009
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	267

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTARRKFACRGITTGVLVREHSNLSTLEKFYFAFPGEILMRMLKLIILPLIISSMITGVAALDSNVSGKIGLRAVVYYFC TTLIAVILGIVLVVSIKPGVTQKVGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQQYKTKREEVKPPSDPEMNMT EESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIVFCLVFGLVIGKMGEKGQILVDFFNALSDATMKIVQIIMCYMPL GILFLIAGKIIEVEDWEIFRKLGLYMGTVLTGLAIHSIVILPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVT FRCAEENNQVDKRITRFVLPVGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMV IVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIVEKLSKKELEQMDVSSEVNIVNPFALESTILDNEDSDTK KSYVNGGFAVDKSDTISFTQTSQF*

Gene Symbol:	SLC1A1
Accession:	XM_011518008
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	290

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTARRKFACRDCKPHGDPDHMSSTELSKVVVCTGITTGVLVREHSNLSTLEKFYFAFPGEILMRMLKLIILPLIISSMIT GVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGVTQKVGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQA CFQQYKTKREEVKPPSDPEMNMTEESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIVFCLVFGLVIGKMGEKGQILV DFFNALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMGTVLTGLAIHSIVILPLIYFIVVRKNPFRFA MGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLPVGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITI SITATSASIGAAGVPQAGLVTMVIVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIVEKLSKKELEQMDVSS EVNIVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF*

Gene Symbol:	SLC1A1
Accession:	XM_011518010
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	240

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGKPARKGCEWKRFLKNNWVLLSTVAAVVLGVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGVTQKVGEI ARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQQYKTKREEVKPPSDPEMNMTEESFTAVMTTAISKNKTKEYKIVGMYS DGINVLGLIVFCLVFGLVIGKMGEKGQILVDFFNALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMG TVLTGLAIHSIVILPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLPVGATINM DGTALYEAVAAVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMVIVLSAVGLPAEDVTLIIAVDWLLDRFR TMVNVLGDAFGTGIVEKLSKKELEQMDVSSEVNIVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF*

Variant Samples

Additional References at PubMed

PMID:25741868

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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