Product Details

SNP ID

rs139688762

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:140784003 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACTATCCATGTCTTCCAGAAAAT[C/G]CTTGTCTTCCCTTAAATCTATAGCT

Phenotype

MIM: 302650

Polymorphism

C/G, Transversion 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	556	Missense Mutation	CAT,GAT	H122D	NP_004056.2

View Full Product Details