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SNP ID

rs192852294

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:28908670 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTGCTGCGAGCCCTGGGGGGCT[A/G]AGGATGGCAGCTGCTCGGCCCGGAG

Phenotype

MIM: 108730 MIM: 611869

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP2A1 PubMed Links

Gene Details

Gene

ATP2A1

Gene Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

There are no transcripts associated with this gene.

Gene

RABEP2

Gene Name

rabaptin, RAB GTPase binding effector protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024816.2	1232	Missense Mutation	TCA,TTA	S395L	NP_079092.2

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