Product Details

SNP ID

rs4601086

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:134916651 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTCTTTTCTCTCAGAGTTTTATT[C/T]TAAGGTATGGTTAGTTCCAAATAAT

Phenotype

MIM: 609836

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PCBD2 PubMed Links

Gene Details

Gene

PCBD2

Gene Name

pterin-4 alpha-carbinolamine dehydratase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032151.4		Intron			NP_115527.3

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