rs8127335 Rat Genome Database

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Variant: rs8127335 - Homo sapiens

RGD ID:

150499012

RS ID:

rs8127335

ClinVar ID:

CV1235661

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PDXK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	45,173,480
GRCh38	21	43,753,599

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_001331030.2:c.519C>T NM_003681.5:c.639C>T NC_000021.9:g.43753599C>T NC_000021.8:g.45173480C>T More...	05/04/2021	synonymous variant	benign	none provided; PDXK-related condition

Variant Details

Variant Transcripts

Gene Symbol:	PDXK
Accession:	XM_047441005
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	140

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

Gene Symbol:	PDXK
Accession:	XM_047441006
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	140

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

Gene Symbol:	PDXK
Accession:	XM_011529761
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	140

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

Gene Symbol:	PDXK
Accession:	XM_047441002
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	155

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

Gene Symbol:	PDXK
Accession:	XM_005261196
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	222

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

Gene Symbol:	PDXK
Accession:	NM_001331030
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	173

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

Gene Symbol:	PDXK
Accession:	XM_047441003
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	155

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

Gene Symbol:	PDXK
Accession:	NM_003681
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	213

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

Gene Symbol:	PDXK
Accession:	XM_005261199
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	140

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

Gene Symbol:	PDXK
Accession:	XM_047441001
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	274

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

Gene Symbol:	PDXK
Accession:	XM_005261195
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	307

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

Gene Symbol:	PDXK
Accession:	XM_047441004
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	140

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

Gene Symbol:	PDXK
Accession:	XM_011529762
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001656344	CLINVAR
	RCV003921298	CLINVAR
dbSNP (RS)	rs8127335	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	PDXK	CLINVAR
OMIM	179020	CLINVAR

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Variant: rs8127335 - Homo sapiens