Product Details

SNP ID

rs140253806

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:160190881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGGGCTGGACTTCCCTGAGTAC[A/G]ATGGTGTGGACCGTGTGATCAATGT

Phenotype

MIM: 607321 MIM: 114250

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP1A4 PubMed Links

Gene Details

Gene

ATP1A4

Gene Name

ATPase Na+/K+ transporting subunit alpha 4

There are no transcripts associated with this gene.

Gene

CASQ1

Gene Name

calsequestrin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001231.4	387	Missense Mutation	AAT,GAT	N44D	NP_001222.3

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