Product Details

SNP ID

rs183987156

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:111247410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCAGTGGTCCTTCTGTAGAAAAT[G/T]GCCTGGGTGTCAAAAATGGCATGAA

Phenotype

MIM: 300146

Polymorphism

G/T, Transversion 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	1892	Silent Mutation	GCA,GCC	A567A	NP_055104.2

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