Product Details

SNP ID

rs113056357

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:144453608 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTTTCCACAGTCACAACACCAGA[C/T]CCGTCGTAGGTATTGGAAGTACTGA

Phenotype

MIM: 606370

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TPK1 PubMed Links

Gene Details

Gene

TPK1

Gene Name

thiamin pyrophosphokinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042482.1	1001	Silent Mutation	GGA,GGG	G174G	NP_001035947.1
NM_022445.3	1001	Silent Mutation	GGA,GGG	G223G	NP_071890.2
XM_005249970.1	1001	Silent Mutation	GGA,GGG	G223G	XP_005250027.1
XM_011516031.1	1001	Silent Mutation	GGA,GGG	G249G	XP_011514333.1
XM_011516032.2	1001	Silent Mutation	GGA,GGG	G249G	XP_011514334.1
XM_011516033.2	1001	Silent Mutation	GGA,GGG	G249G	XP_011514335.1
XM_011516034.2	1001	Silent Mutation	GGA,GGG	G249G	XP_011514336.1
XM_011516035.2	1001	UTR 3			XP_011514337.1
XM_011516037.2	1001	Silent Mutation	GGA,GGG	G244G	XP_011514339.1
XM_011516039.2	1001	Silent Mutation	GGA,GGG	G223G	XP_011514341.1
XM_011516040.2	1001	Intron			XP_011514342.1
XM_011516041.2	1001	Silent Mutation	GGA,GGG	G218G	XP_011514343.1
XM_011516043.1	1001	Silent Mutation	GGA,GGG	G200G	XP_011514345.1
XM_011516044.1	1001	Silent Mutation	GGA,GGG	G169G	XP_011514346.1
XM_011516046.1	1001	Intron			XP_011514348.1
XM_011516047.2	1001	Silent Mutation	GGA,GGG	G117G	XP_011514349.1
XM_011516048.1	1001	Silent Mutation	GGA,GGG	G117G	XP_011514350.1
XM_011516050.1	1001	Silent Mutation	GGA,GGG	G117G	XP_011514352.1
XM_017011969.1	1001	Intron			XP_016867458.1
XM_017011970.1	1001	Silent Mutation	GGA,GGG	G244G	XP_016867459.1
XM_017011971.1	1001	Silent Mutation	GGA,GGG	G244G	XP_016867460.1
XM_017011972.1	1001	Intron			XP_016867461.1
XM_017011973.1	1001	Silent Mutation	GGA,GGG	G223G	XP_016867462.1
XM_017011974.1	1001	Silent Mutation	GGA,GGG	G223G	XP_016867463.1
XM_017011975.1	1001	Silent Mutation	GGA,GGG	G223G	XP_016867464.1
XM_017011976.1	1001	UTR 3			XP_016867465.1
XM_017011977.1	1001	Silent Mutation	GGA,GGG	G218G	XP_016867466.1
XM_017011978.1	1001	Silent Mutation	GGA,GGG	G218G	XP_016867467.1
XM_017011979.1	1001	Silent Mutation	GGA,GGG	G174G	XP_016867468.1
XM_017011980.1	1001	Silent Mutation	GGA,GGG	G143G	XP_016867469.1
XM_017011981.1	1001	Silent Mutation	GGA,GGG	G143G	XP_016867470.1
XM_017011982.1	1001	Silent Mutation	GGA,GGG	G117G	XP_016867471.1
XM_017011983.1	1001	Silent Mutation	GGA,GGG	G117G	XP_016867472.1
XM_017011984.1	1001	Silent Mutation	GGA,GGG	G117G	XP_016867473.1
XM_017011985.1	1001	Silent Mutation	GGA,GGG	G117G	XP_016867474.1
XM_017011986.1	1001	Silent Mutation	GGA,GGG	G117G	XP_016867475.1

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