Product Details

SNP ID

hCV621250

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:110282770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGAAGACTTGCTAGTTAGGATTT[C/T]ATTACTGGCAGCATGTATATCTTTT

Phenotype

MIM: 108740

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP2A2 PubMed Links

Gene Details

Gene

ATP2A2

Gene Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001681.3	757	Missense Mutation	TCA,TTA	S65L	NP_001672.1
NM_170665.3	757	Missense Mutation	TCA,TTA	S65L	NP_733765.1

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