Product Details

SNP ID

rs142440028

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:194397416 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCCACAGCTCCTGCAGGCCCCC[C/G]ATCTCCCCGAAGAGCACCCCCGGGA

Phenotype

MIM: 610232 MIM: 173511

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATP13A3 PubMed Links

Gene Details

Gene

ATP13A3

Gene Name

ATPase 13A3

There are no transcripts associated with this gene.

Gene

GP5

Gene Name

glycoprotein V platelet

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004488.2	898	Missense Mutation	ATC,ATG	I289M	NP_004479.1

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