Product Details

SNP ID

rs111470998

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:55567218 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTGTGGAACAACATCAAGAAATG[G/T]CAGTGTGTTTATAAGCAGTATGACA

Phenotype

MIM: 616767 MIM: 612040

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CAPNS2 PubMed Links

Gene Details

Gene

CAPNS2

Gene Name

calpain small subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032330.1	547	Missense Mutation	TGG,TGT	W154C	NP_115706.1

Gene

LPCAT2

Gene Name

lysophosphatidylcholine acyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017839.4	547	Intron			NP_060309.2
XM_005256006.2	547	Intron			XP_005256063.1
XM_011523169.2	547	Intron			XP_011521471.1
XM_017023376.1	547	Intron			XP_016878865.1

View Full Product Details