RGD:156112353 Rat Genome Database

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RGD ID:

156112353

ClinVar ID:

CV2228453

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	45,163,646
GRCh38	21	43,743,765

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001331030.2:c.169A>G NM_003681.5:c.289A>G NC_000021.9:g.43743765A>G NC_000021.8:g.45163646A>G More...	07/13/2021	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	PDXK
Accession:	XM_011529761
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	XM_047441004
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	XM_047441002
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTTCSQLIVVSLLFSEGDLDSPPKGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKE KVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMER IRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKR DIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	XM_005261195
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	191

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLPLCLACGGGSGGLSALRAPAGGTGPASGYAGRREPCAPAMAQPLVLAPSRRPGQLPRGRAGGAAPGGEEMSQSPEES RSSHASRDLAPLERRSGRGARDARALTSWAPVRGEVRKKTPSEVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELY EGLRLNNMNKYDYVLTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADI ITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKV DAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIV VQATVL*

Gene Symbol:	PDXK
Accession:	XM_047441005
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	NM_003681
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	97

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEECRVLSIQSHVIRGYVGNRAATFPLQVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYV LTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGR KIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAM LLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	XM_005261199
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	NM_001331030
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	57

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRSRPPGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYVLTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKW DGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLI VLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGE GVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	XM_005261196
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAARGALGLTSSKGWGRRPHFHSRDSLPASVQCVDRWVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRL NNMNKYDYVLTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQ FEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFV GTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATV L*

Gene Symbol:	PDXK
Accession:	XM_047441003
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTTCSQLIVVSLLFSEGDLDSPPKGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKE KVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMER IRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKR DIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	XM_047441001
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	158

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRLWKRPDQLAMLMNKLILMGCVKRRCQPRGSACSCSHLKAENSDFILGYVCQPQRINYLHTQKQWSRIFWQDFQDLCH RCLISVSSQSVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYVLTGYTRDKSFLAMVVDVVQ ELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMG PDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKT VSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:	PDXK
Accession:	XM_047441006
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDVVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

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)

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

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