Product Details

SNP ID
rs140989246
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:70107626 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCGGGCCGCCGGTGGAAGGAGAC[A/G]GGTGGCTGAAGAGTTTCCAGCGGAG
Phenotype
MIM: 603680 MIM: 605332
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ATXN8OS PubMed Links

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_001286725.1 868 Missense Mutation NP_001273654.1
NM_020866.2 868 Missense Mutation NP_065917.1
XM_017020678.1 868 Intron XP_016876167.1
XM_017020679.1 868 Intron XP_016876168.1

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