Product Details

SNP ID

rs141293401

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3586842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCAAGGAAGGCAGTATCATCAACC[A/G]GATCGAGGCAGTGTGCGTGGGTGAC

Phenotype

MIM: 608792 MIM: 605535 MIM: 188070

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GIPC3 PubMed Links

Gene Details

Gene

GIPC3

Gene Name

GIPC PDZ domain containing family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_133261.2	507	Missense Mutation	CAG,CGG	Q147R	NP_573568.1
XM_005259492.3	507	Missense Mutation	CAG,CGG	Q147R	XP_005259549.1

Gene

HMG20B

Gene Name

high mobility group 20B

There are no transcripts associated with this gene.

Gene

TBXA2R

Gene Name

thromboxane A2 receptor

There are no transcripts associated with this gene.

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