RGD:405695544 Rat Genome Database

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Variant: RGD:405695544 -  Homo sapiens

RGD ID: 405695544
ClinVar ID: CV3226645
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDXK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,175,832
GRCh38 21 43,755,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001331030.2:c.707C>T
NM_003681.5:c.827C>T
NC_000021.9:g.43755951C>T
NC_000021.8:g.45175832C>T
More... 		03/01/2024 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PDXK
Accession:NM_003681
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEECRVLSIQSHVIRGYVGNRAATFPLQVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYV
LTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGR
KIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAM
LLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:NM_001331030
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 236
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRSRPPGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKW
DGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLI
VLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGE
GVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_047441005
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE
AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT
GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_047441001
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLWKRPDQLAMLMNKLILMGCVKRRCQPRGSACSCSHLKAENSDFILGYVCQPQRINYLHTQKQWSRIFWQDFQDLCH
RCLISVSSQSVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYVLTGYTRDKSFLAMVVDIVQ
ELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMG
PDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKT
VSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_047441006
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE
AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT
GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_005261196
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 285
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCAARGALGLTSSKGWGRRPHFHSRDSLPASVQCVDRWVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRL
NNMNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQ
FEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFV
GTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATV
L*

Gene Symbol:PDXK
Accession:XM_005261199
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE
AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT
GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_047441003
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSQLIVVSLLFSEGDLDSPPKGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKE
KVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMER
IRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKR
DIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_011529761
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE
AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT
GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_005261195
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLPLCLACGGGSGGLSALRAPAGGTGPASGYAGRREPCAPAMAQPLVLAPSRRPGQLPRGRAGGAAPGGEEMSQSPEES
RSSHASRDLAPLERRSGRGARDARALTSWAPVRGEVRKKTPSEVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELY
EGLRLNNMNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADI
ITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKV
DAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIV
VQATVL*

Gene Symbol:PDXK
Accession:XM_047441002
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSQLIVVSLLFSEGDLDSPPKGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKE
KVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMER
IRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKR
DIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_047441004
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFE
AELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGT
GDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKVQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL*

Gene Symbol:PDXK
Accession:XM_011529762
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003993038 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PDXK CLINVAR
OMIM 179020 CLINVAR