Product Details

SNP ID
rs148670935
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:140783760 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCGGAAAAAATCCAGGTCTTCC[A/G]GCCAATATATGTCTTCCTGAAGATC
Phenotype
MIM: 302650
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CDR1 PubMed Links

Gene Details

Gene
CDR1
Gene Name
cerebellar degeneration related protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004065.2 799 Missense Mutation CGG,TGG R203W NP_004056.2

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