Product Details

SNP ID

rs112970995

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41958850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTTGCGGGGCCGTGAGAAGCGC[C/T]GCTGGTCCACGAAGGTGCTCCAGGG

Phenotype

MIM: 182350 MIM: 604925

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP1A3 PubMed Links

Gene Details

Gene

ATP1A3

Gene Name

ATPase Na+/K+ transporting subunit alpha 3

There are no transcripts associated with this gene.

Gene

RABAC1

Gene Name

Rab acceptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006423.2	239	Missense Mutation	CAG,CGG	Q52R	NP_006414.2

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