Product Details

SNP ID

rs12291603

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:112230111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGGGGACAGATCTAATAATTTA[C/T]GTTGCCAACTTGTGCTTGTATGTTG

Phenotype

MIM: 612719

Polymorphism

C/T, 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		Intron			NP_000308.1

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