Product Details

SNP ID

rs138243017

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.13:70107457 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGGAAGAGGAGGAAGAGGACGG[A/G]GAGGACGATGAAGAGGAAGAGGAGG

Phenotype

MIM: 603680 MIM: 605332

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ATXN8OS PubMed Links

Additional Information

For this assay, SNP(s) [rs3751427] are located under a probe 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

ATXN8OS

Gene Name

ATXN8 opposite strand (non-protein coding)

There are no transcripts associated with this gene.

Gene

KLHL1

Gene Name

kelch like family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286725.1	1037	Silent Mutation	TCC,TCT	S81S	NP_001273654.1
NM_020866.2	1037	Silent Mutation	TCC,TCT	S81S	NP_065917.1
XM_017020678.1	1037	Intron			XP_016876167.1
XM_017020679.1	1037	Intron			XP_016876168.1

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