Product Details

SNP ID

rs138687868

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:111246723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTCAGCATCCAGAGTAACCTGCC[C/T]CAAGAACTGATCACAGAATTTTCGG

Phenotype

MIM: 300146

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAPN6 PubMed Links

Gene Details

Gene

CAPN6

Gene Name

calpain 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014289.3	1971	Missense Mutation	AGG,GGG	R594G	NP_055104.2

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