Product Details

SNP ID

rs139643440

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:92116193 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACATTCGATAATCTAGCCAGTCT[C/T]TACTTCCAGGTAACTTCTTCACTGG

Phenotype

MIM: 607047 MIM: 606028 MIM: 603837

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATXN3 PubMed Links

Gene Details

Gene

ATXN3

Gene Name

ataxin 3

There are no transcripts associated with this gene.

Gene

CPSF2

Gene Name

cleavage and polyadenylation specific factor 2

There are no transcripts associated with this gene.

Gene

NDUFB1

Gene Name

NADH:ubiquinone oxidoreductase subunit B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004545.3		Intron			NP_004536.2

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