Product Details

SNP ID

rs150503343

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:74268169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCACTTATCTCCCACCAGGACAG[A/G]ACAGCCAGCATGAAGTGTGTCACTG

Phenotype

MIM: 608987

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

P4HA3 PubMed Links

Gene Details

Gene

P4HA3

Gene Name

prolyl 4-hydroxylase subunit alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288748.1	1605	Silent Mutation	GTC,GTT	V511V	NP_001275677.1
NM_182904.4	1605	Missense Mutation	CCT,TCT	P514S	NP_878907.1

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