Product Details

SNP ID

rs57043559

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:63883228 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATAGTAGAGGCTCAGTAAATGTTT[A/C]TTGAATATAAATCTGAATCAGACCA

Phenotype

MIM: 607640

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATXN7 PubMed Links

Gene Details

Gene

ATXN7

Gene Name

ataxin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000333.3		Intron			NP_000324.1
NM_001128149.2		Intron			NP_001121621.2
NM_001177387.1		Intron			NP_001170858.1

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