Product Details

SNP ID

rs144615286

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41724975 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCTCCTCTGACACCAGCTCTGCC[A/T]CTTCCATCACCCCTTCCTCAGCCGG

Phenotype

MIM: 137250 MIM: 600947

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

GAST PubMed Links

Additional Information

For this assay, SNP(s) [rs8075017] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

GAST

Gene Name

gastrin

There are no transcripts associated with this gene.

Gene

HAP1

Gene Name

huntingtin associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079870.1	1523	Missense Mutation	GAG,GTG	E512V	NP_001073339.1
NM_001079871.1	1523	Missense Mutation	GAG,GTG	E504V	NP_001073340.1
NM_177977.2	1523	Missense Mutation	GAG,GTG	E529V	NP_817084.2

View Full Product Details