Product Details

SNP ID

rs200056222

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:16482581 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAATACCTTCTGGTTTCAGGCCAT[C/G]CTGTATCAAAAAAACCATATGGGGT

Phenotype

MIM: 611414

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CALR3 PubMed Links

Gene Details

Gene

CALR3

Gene Name

calreticulin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145046.4	850	Missense Mutation	CAT,GAT	H263D	NP_659483.2

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