Product Details

SNP ID

rs150506549

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:111453744 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAATGGGCTGTAGTGCACTTTG[A/G]GCGAGGGCGGCCTGGGGACCGCCGG

Phenotype

MIM: 601517 MIM: 605093

Polymorphism

A/G, 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	3289	Silent Mutation	GCC,GCT	A1042A	NP_001297050.1
NM_001310123.1	3289	Silent Mutation	GCC,GCT	A975A	NP_001297052.1
NM_002973.3	3289	Silent Mutation	GCC,GCT	A1282A	NP_002964.3

Gene

SH2B3

Gene Name

SH2B adaptor protein 3

There are no transcripts associated with this gene.

View Full Product Details