Product Details

SNP ID

rs72840230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:16304091 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGTTTTTGGTACACCCCAGAAAA[C/T]GGTTTATAAAAATCATTAGTCCTGG

Phenotype

MIM: 601556 MIM: 139265

Polymorphism

C/T, 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	5657	UTR 3			NP_000323.2
NM_001128164.1	5657	UTR 3			NP_001121636.1

Gene

GMPR

Gene Name

guanosine monophosphate reductase

There are no transcripts associated with this gene.

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