Product Details

SNP ID
rs147745826
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:140784330 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGGTATGTCTTCCAACAAAGGTA[C/T]GTCTTCCAGAAAATCCACGTCTTCC
Phenotype
MIM: 302650
Polymorphism
C/T, 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_004065.2 229 Missense Mutation ATA,GTA I13V NP_004056.2

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