Product Details

SNP ID

rs146229941

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:22347816 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCAGCGAACACATGATCATACA[C/T]GAAGTGTCTAGGGAAAAAAATATTG

Phenotype

MIM: 117340

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CDR2 PubMed Links

Gene Details

Gene

CDR2

Gene Name

cerebellar degeneration related protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001802.1	822	Missense Mutation	ATG,GTG	M172V	NP_001793.1

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