Product Details

SNP ID

rs78566245

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:16300276 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGTTGTTATTGTATAGATACTAC[C/T]TATTGGCCAAATGCACTTAATTTTA

Phenotype

MIM: 601556 MIM: 139265

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ATXN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs148689787] are located under a primer 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

ATXN1

Gene Name

ataxin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000332.3	9472	UTR 3			NP_000323.2
NM_001128164.1	9472	UTR 3			NP_001121636.1

Gene

GMPR

Gene Name

guanosine monophosphate reductase

There are no transcripts associated with this gene.

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