Product Details

SNP ID

rs151024127

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:240590956 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGCAGGGAGACTCTGTTTCTCC[C/T]GCTGCCAGAGGGAGGATGTGTTCTG

Phenotype

MIM: 605286

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAPN10 PubMed Links

Gene Details

Gene

CAPN10

Gene Name

calpain 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023083.3	611	Missense Mutation	CGC,TGC	R139C	NP_075571.1
NM_023085.3	611	Missense Mutation	CGC,TGC	R139C	NP_075573.2

Gene

CAPN10-AS1

Gene Name

CAPN10 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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