Product Details

SNP ID
rs3134582
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:16300076 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTTATCTTGGTAAGGATTACTGT[A/G]AACAACACTTCCAACGAAGGCCTTC
Phenotype
MIM: 601556 MIM: 139265
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ATXN1 PubMed Links

Gene Details

Gene
ATXN1
Gene Name
ataxin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000332.3 9672 UTR 3 NP_000323.2
NM_001128164.1 9672 UTR 3 NP_001121636.1
Gene
GMPR
Gene Name
guanosine monophosphate reductase
There are no transcripts associated with this gene.

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