RGD:126913348 Rat Genome Database

RGD ID:

126913348

RS ID:

rs745983440

ClinVar ID:

CV1046477

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	13,336,504
GRCh38	10	13,294,504

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001323082.2:c.338C>T NM_001037537.2:c.38C>T NM_001323080.2:c.38C>T NM_001323084.2:c.38C>T More...	03/17/2020	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	PHYH
Accession:	NM_006214
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQR FRNEFEKICRKEVKPLGLTVMRDVTISKSEYALSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLIN KPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYE ENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNL KDIWMFRARLVKGERTNL*

Gene Symbol:	PHYH
Accession:	NM_001037537
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDVTISKSEYALSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHY FPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHP LLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL*

Gene Symbol:	PHYH
Accession:	NM_001323083
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQR FRNEFEKICRKEVKPLGLTVMRDVTISKSEYALSEKMITKVQDFQEDKELFRYCTLPEGGVNKMFHGIQDYEENKARVHL VMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRA RLVKGERTNL*

Gene Symbol:	PHYH
Accession:	NM_001323082
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQR FRNEFEKICRKEVKPLGLTVMRDVTISKSEYALSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLIN KPPDSGNCKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQD YEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSV NLKDIWMFRARLVKGERTNL*

Gene Symbol:	PHYH
Accession:	NM_001323084
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDVTISKSEYALSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGNCKKTSRHPLHQDL HYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFF HPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL *

Gene Symbol:	PHYH
Accession:	NM_001323080
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDVTISKSEYALSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHY FPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHP LLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL*

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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