Product Details

SNP ID

rs200428113

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:28878780 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTAAGCGGAATCTGGAGAAATAC[A/G]GCCTCAATGGTAAGTGTCCCTTGGA

Phenotype

MIM: 108730 MIM: 608937

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286075.1	293	Intron			NP_001273004.1
NM_004320.4	293	Missense Mutation	AGC,GGC	S37G	NP_004311.1
NM_173201.3	293	Missense Mutation	AGC,GGC	S37G	NP_775293.1

Gene

ATP2A1-AS1

Gene Name

ATP2A1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

SH2B1

Gene Name

SH2B adaptor protein 1

There are no transcripts associated with this gene.

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