Product Details

SNP ID

rs200274411

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:22347590 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCACCTCGGCCTCTAGTTCCAGC[A/G]CCCGTGCTCGGTAGGCACCTGTGGC

Phenotype

MIM: 117340

Polymorphism

A/G, 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	1048	Missense Mutation	GCG,GTG	A247V	NP_001793.1

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