Product Details

SNP ID
rs138056772
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13319522 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTATCTGATATTAATTCTGGACCC[A/G]CCAAGAGAGAATTCAAGTTAAACCA
Phenotype
MIM: 300920
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATXN3L PubMed Links

Gene Details

Gene
ATXN3L
Gene Name
ataxin 3 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135995.1 878 Missense Mutation NP_001129467.1
Gene
GS1-600G8.3
Gene Name
unknown transcript
There are no transcripts associated with this gene.

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