Product Details

SNP ID

rs188229631

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48990480 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCGTGCACCTGTACCTGGGTAACG[A/T]GCTGGCGCTGCTGCTCTTCGTGCAC

Phenotype

MIM: 605615 MIM: 614584

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ARIH2 PubMed Links

Gene Details

Gene

ARIH2

Gene Name

ariadne RBR E3 ubiquitin protein ligase 2

There are no transcripts associated with this gene.

Gene

P4HTM

Gene Name

prolyl 4-hydroxylase, transmembrane

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_177938.2	573	Missense Mutation	GAG,GTG	E75V	NP_808807.2
NM_177939.2	573	Missense Mutation	GAG,GTG	E75V	NP_808808.1

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