Product Details

SNP ID

rs139239159

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:111456107 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGATGGATCGTAAAGACAGTCTG[C/T]TGTGCTGCTGGGAAACTATTCTGTG

Phenotype

MIM: 601517 MIM: 605093

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATXN2 PubMed Links

Gene Details

Gene

ATXN2

Gene Name

ataxin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001310121.1	3034	Silent Mutation	CAA,CAG	Q957Q	NP_001297050.1
NM_001310123.1	3034	Silent Mutation	CAA,CAG	Q915Q	NP_001297052.1
NM_002973.3	3034	Silent Mutation	CAA,CAG	Q1222Q	NP_002964.3

Gene

SH2B3

Gene Name

SH2B adaptor protein 3

There are no transcripts associated with this gene.

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