Product Details

SNP ID

rs199645291

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:74198330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTATCGCTGCGAGAAGCCACCCAG[A/C]GAAAATTGCGGAGGTTTTCCGAGCT

Phenotype

MIM: 603609

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FPGT PubMed Links

Gene Details

Gene

FPGT

Gene Name

fucose-1-phosphate guanylyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199328.2	119	Silent Mutation	AGA,CGA	R31R	NP_001186257.2
NM_001199329.2	119	Silent Mutation	AGA,CGA	R31R	NP_001186258.2
NM_003838.4	119	Silent Mutation	AGA,CGA	R31R	NP_003829.3

Gene

FPGT-TNNI3K

Gene Name

FPGT-TNNI3K readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001112808.2	119	Silent Mutation	AGA,CGA	R31R	NP_001106279.2
NM_001199327.1	119	Silent Mutation	AGA,CGA	R31R	NP_001186256.2

Gene

LRRIQ3

Gene Name

leucine rich repeats and IQ motif containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105659.1	119	Intron			NP_001099129.1
NM_001322315.1	119	Intron			NP_001309244.1
XM_011540658.1	119	Intron			XP_011538960.1
XM_011540659.1	119	Intron			XP_011538961.1
XM_011540660.1	119	Intron			XP_011538962.1
XM_011540662.2	119	Intron			XP_011538964.1
XM_011540663.2	119	Intron			XP_011538965.1
XM_017000286.1	119	Intron			XP_016855775.1
XM_017000287.1	119	Intron			XP_016855776.1
XM_017000288.1	119	Intron			XP_016855777.1

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