RGD:14708827 Rat Genome Database

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Variant: RGD:14708827 -  Homo sapiens

RGD ID: 14708827
RS ID: rs147602742
ClinVar ID: CV635843
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 144,288,625
GRCh38 7 144,591,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001337808.1:p.Arg131His
NP_001337810.1:p.Arg131His
NM_001350882.1:c.377G>A
NM_001350883.1:c.377G>A
More... 		10/11/2018 intron variant uncertain significance ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPK1
Accession:NM_001350887
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350879
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_022445
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_005249970
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_001350889
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516040
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLILIISKGTQS
RQ*

Gene Symbol:TPK1
Accession:XM_024446717
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420192
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_047420197
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350893
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516037
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350881
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLRTCDYTRTTWIAKDNPVPRLIRLIRLNHICKVPLAI
K*

Gene Symbol:TPK1
Accession:NM_001350895
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTT
TGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350882
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350883
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516032
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350885
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420198
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011971
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011981
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLAERGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_011516031
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516039
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKDSSDSILQDLTWTMCEKALNFLPEFINGDFDSIRPEVREYYATKVLIFSILGTSFKEEKEPFSG
RREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_017011972
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLREGFKEIPIC
PAHADG*

Gene Symbol:TPK1
Accession:NM_001350886
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350894
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516047
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516034
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011969
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLRTCDYTRTTW
IAKDNPVPRLIRLIRLNHICKVPLAMRRI*

Gene Symbol:TPK1
Accession:XM_011516033
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516048
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011970
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011980
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLAERGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_001350884
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420199
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGHFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NR_146936
Location:EXON;NON-CODING

Gene Symbol:TPK1
Accession:XR_001744630
Location:EXON;NON-CODING

Gene Symbol:TPK1
Accession:NM_001350880
Location:INTRON

Gene Symbol:TPK1
Accession:XM_011516046
Location:INTRON

Gene Symbol:TPK1
Accession:NM_001042482
Location:INTRON

Gene Symbol:TPK1
Accession:XM_047420194
Location:INTRON

Gene Symbol:TPK1
Accession:XM_047420196
Location:INTRON

Gene Symbol:TPK1
Accession:XM_047420195
Location:INTRON

Gene Symbol:TPK1
Accession:XM_011516043
Location:INTRON

Gene Symbol:TPK1
Accession:NR_146934
Location:INTRON;NON-CODING

Gene Symbol:TPK1
Accession:NR_146935
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000792700 CLINVAR
dbSNP (RS) rs147602742 CLINVAR
MedGen C3280866 CLINVAR
NCBI Gene TPK1 CLINVAR
OMIM 606370 CLINVAR
  614458 CLINVAR