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SNP ID

rs138239732

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:16479227 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCTCCTCTTCCTCGCGGGCCTT[C/G]TTCATTTCCTCCTTGGCCTGTATGG

Phenotype

MIM: 611414 MIM: 616826

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	1122	Missense Mutation	AAC,AAG	N353K	NP_659483.2

Gene

EPS15L1

Gene Name

epidermal growth factor receptor pathway substrate 15 like 1

There are no transcripts associated with this gene.

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