Product Details

SNP ID

rs200322282

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3589517 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGACCAGCGGGAGGGAGACCCTG[C/T]GGCTTCGTTCTGGGGGGGCTGCCAC

Phenotype

MIM: 608792 MIM: 188070

Polymorphism

C/T, 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	734	Missense Mutation	CGG,TGG	R223W	NP_573568.1
XM_005259492.3	734	Missense Mutation	CGG,TGG	R223W	XP_005259549.1

Gene

TBXA2R

Gene Name

thromboxane A2 receptor

There are no transcripts associated with this gene.

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