RGD:150409895 Rat Genome Database

Variant: RGD:150409895 - Homo sapiens

RGD ID:

150409895

RS ID:

rs1289837459

ClinVar ID:

CV1196062

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

COX15

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	101,483,828
GRCh38	10	99,724,071

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001320975.2:c.635C>T NP_001307904.1:p.Ser212Phe NP_001358957.1:p.Ser212Phe NP_004367.2:p.Ser212Phe More...		missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	COX15
Accession:	NM_001372026
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRIL GITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVP K*

Gene Symbol:	COX15
Accession:	NM_001372028
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:	COX15
Accession:	NM_001372024
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQSFTLVAQAGVQWRDLSSLCNLHFPGSSDSHASA SRVAGTTGTSHHAWLILYF*

Gene Symbol:	COX15
Accession:	NM_001320975
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:	COX15
Accession:	NM_004376
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQGPVLFNFTFKISDLDEGIRNI*

Gene Symbol:	COX15
Accession:	XM_006717634
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:	COX15
Accession:	NM_001320974
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQTYYRTELSQKMQLHCNSTNMS*

Gene Symbol:	COX15
Accession:	NM_001320976
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQ LRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITV LYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK*

Gene Symbol:	COX15
Accession:	NM_078470
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALW LMNELRRVPK*

Gene Symbol:	COX15
Accession:	NM_001372025
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILTLSSLQGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLAL LTGALWLMNELRRVPK*

Gene Symbol:	COX15
Accession:	NM_001372027
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDFHDIPRVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAWAWASARC*

Gene Symbol:	COX15
Accession:	NR_164009
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001572838	CLINVAR
dbSNP (RS)	rs1289837459	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	COX15	CLINVAR
OMIM	603646	CLINVAR

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)

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

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Variant: RGD:150409895 - Homo sapiens