Product Details

SNP ID

rs2234266

Assay Type

Functionally tested

NCBI dbSNP Submissions

20

Location

Chr.1:46181108 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACATGTCTACCTCCCAGGAGCCACC[A/G]TGCAGTGCTTCAGCTTCATTAAGAC

Phenotype

MIM: 606076 MIM: 606822 MIM: 613170

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PIK3R3 PubMed Links

Gene Details

Gene

PIK3R3

Gene Name

phosphoinositide-3-kinase regulatory subunit 3

There are no transcripts associated with this gene.

Gene

POMGNT1

Gene Name

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

There are no transcripts associated with this gene.

Gene

TSPAN1

Gene Name

tetraspanin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005727.3	449	Missense Mutation	ATG,GTG	M1V	NP_005718.2
XM_011540460.2	449	Missense Mutation	ATG,GTG	M1V	XP_011538762.1

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