RGD:28899208 Rat Genome Database

RGD ID:

28899208

RS ID:

rs1947134249

ClinVar ID:

CV867471

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	124,791,225
GRCh38	11	124,921,329

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_029603.1:g.20084C>T NC_000011.9:g.124791225G>A NC_000011.10:g.124921329G>A NM_152722.4:c.1060C>T More...	01/13/2018	missense variant	uncertain significance	VAN DER KNAAP DISEASE

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	HEPACAM
Accession:	NM_001411043
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	406

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVV QSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEGELPATQSPIPSTIRSVGCWEKAELGDK ENSSAGTLPPPTARRLQRRERFGQADTLPRSGEQERKNPMALYILKDKDSPETEENPAPEPRSATEPGPPGYSVSPAVPG RSPGLSIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGVHIIREQDEAGPVEISA*

Gene Symbol:	HEPACAM
Accession:	XM_005271449
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	353

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVV QSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEDTLPRSGEQERKNPMALYILKDKDSPET EENPAPEPRSATEPGPPGYSVSPAVPGRSPGLSIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGVH IIREQDEAGPVEISA*

Gene Symbol:	HEPACAM
Accession:	NM_152722
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	354

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVV QSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEADTLPRSGEQERKNPMALYILKDKDSPE TEENPAPEPRSATEPGPPGYSVSPAVPGRSPGLSIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGV HIIREQDEAGPVEISA*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	406

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVV QSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEGELPATQSPIPSTIRSVGCWEKAELGDK ENSSAGTLPPPTARRLQRRERFGQADTLPRSGEQERKNPMALYILKDKDSPETEENPAPEPRSATEPGPPGYSVSPAVPG RSPGLSIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGVHIIREQDEAGPVEISA*

Variant Samples

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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