Product Details

SNP ID

rs104894277

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:112230210 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTATTTTGTTTTCTTTCCATAGTT[A/G]TGGTGACAGTACATGGAGAGGTATG

Phenotype

MIM: 612719

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PTS PubMed Links

Gene Details

Gene

PTS

Gene Name

6-pyruvoyltetrahydropterin synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000317.2	245	Missense Mutation	ATG,GTG	M56V	NP_000308.1

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