Product Details

SNP ID

rs201729955

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:74267279 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAGGGCTGGAGCTGCAGGGTCTG[C/T]GGAATTCCTGTCCATACTCATGTAT

Phenotype

MIM: 608987

Polymorphism

C/T, 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	1669	Missense Mutation	ACA,GCA	T533A	NP_001275677.1
NM_182904.4	1669	Missense Mutation	CAC,CGC	H535R	NP_878907.1

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