Product Details

SNP ID

rs145081186

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3586880 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCGTGGGTGACAGCATCGAAGCC[A/C]TCAACGACCACTCCATTGTGGGCTG

Phenotype

MIM: 608792 MIM: 605535 MIM: 188070

Polymorphism

A/C, Transversion 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	545	Missense Mutation	ATC,CTC	I160L	NP_573568.1
XM_005259492.3	545	Missense Mutation	ATC,CTC	I160L	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.

View Full Product Details