Product Details

SNP ID

rs319592

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:134916929 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGACTCGAGGCAGGGAGTTTCCACA[C/G]TAGGAGTGCTTGGACCCAGACAGGG

Phenotype

MIM: 609836

Polymorphism

C/G, Transversion 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

View Full Product Details