Product Details

SNP ID
rs79289346
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:111456374 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTATGATGAGGGTCACTGGAAAGTA[C/T]AGGAGAATGTACAGGGTGGTAAGAG
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 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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