Product Details

SNP ID

rs3210169

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81845595 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACTGGCAGGAAAGAACTTGAGT[C/G]TGGGGAAGCTGTGCACTTTGACGGC

Phenotype

MIM: 176790

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

P4HB PubMed Links

Gene Details

Gene

P4HB

Gene Name

prolyl 4-hydroxylase subunit beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000918.3	1522	Missense Mutation	ACA,AGA	T442R	NP_000909.2

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