Product Details

SNP ID

rs2000320

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:223705226 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAAGTAACAAAACAAAGAGGCAA[C/G]ACAGAGCCAAATGTCTCCTATGGTT

Phenotype

MIM: 114230

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CAPN2 PubMed Links

Gene Details

Gene

CAPN2

Gene Name

calpain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146068.1		Intron			NP_001139540.1
NM_001748.4		Intron			NP_001739.2
XM_011544286.2		Intron			XP_011542588.1

View Full Product Details