Product Details

SNP ID

rs4493312

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:69321741 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCAAAAACACATTCAACCACAGA[A/T]CATTCAGAAAGCTAACAGGATCATT

Phenotype

MIM: 138292

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GFPT1 PubMed Links

Gene Details

Gene

GFPT1

Gene Name

glutamine--fructose-6-phosphate transaminase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244710.1	6677	UTR 3			NP_001231639.1
NM_002056.3	6677	UTR 3			NP_002047.2

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