RGD:156300519 Rat Genome Database

RGD ID:

156300519

ClinVar ID:

CV1955538

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	116,706,791
GRCh38	11	116,836,075

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_767t1:c.537T>G NM_000039.3:c.537T>G NM_001318017.2:c.537T>G NM_001318018.2:c.537T>G More...	06/03/2022	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	APOA1
Accession:	NM_000039
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE LQEKLSPLGEEMRDRARAQVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:	APOA1
Accession:	NM_001318021
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	70

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQEKLSPLGEEMRDRARAQVDALRTHLAP YSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQGLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:	APOA1
Accession:	NM_001318018
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE LQEKLSPLGEEMRDRARAQVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:	APOA1
Accession:	NM_001318017
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE LQEKLSPLGEEMRDRARAQVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:	APOA1
Accession:	XM_047426866
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE LQEKLSPLGEEMRDRARAQVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ GLLPVLESFKVSFLSALEEYTKKLNTQ*

Variant Samples

Additional References at PubMed

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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