Product Details

SNP ID

rs2301622

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.12:111457399 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AAAGGAGCATGTACACAACCGATGT[C/G]TGACAACCTCCATCGCTCCTCTACA

Phenotype

MIM: 601517 MIM: 605093

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

ATXN2 PubMed Links

Additional Information

For this assay, SNP(s) [rs12301585] are located under a probe 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

ATXN2

Gene Name

ataxin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001310121.1		Intron			NP_001297050.1
NM_001310123.1		Intron			NP_001297052.1
NM_002973.3		Intron			NP_002964.3

Gene

SH2B3

Gene Name

SH2B adaptor protein 3

There are no transcripts associated with this gene.

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