Product Details

SNP ID

rs200257202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:55567253 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATAAGCAGTATGACAGGGACCATT[A/C]TGGGTCTCTGGGAAGTTCTCAGCTG

Phenotype

MIM: 616767 MIM: 612040

Polymorphism

A/C, 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	582	Missense Mutation	TAT,TCT	Y166S	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	582	Intron			NP_060309.2
XM_005256006.2	582	Intron			XP_005256063.1
XM_011523169.2	582	Intron			XP_011521471.1
XM_017023376.1	582	Intron			XP_016878865.1

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