Product Details

SNP ID
rs200995700
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:194406084 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTCTACAGCCCAGGGCCCAGGG[C/T]AAGCAGCATTTTCCCCACCGATCCA
Phenotype
MIM: 610232 MIM: 173511
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP13A3 PubMed Links

Gene Details

Gene
ATP13A3
Gene Name
ATPase 13A3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024524.3 4045 Silent Mutation TTA,TTG L1172L NP_078800.3
XM_005269357.3 4045 Silent Mutation TTA,TTG L1202L XP_005269414.1
XM_011513120.2 4045 Silent Mutation TTA,TTG L1202L XP_011511422.1
XM_011513121.1 4045 Silent Mutation TTA,TTG L1202L XP_011511423.1
XM_011513122.1 4045 Silent Mutation TTA,TTG L1175L XP_011511424.1
XM_011513123.2 4045 Silent Mutation TTA,TTG L1172L XP_011511425.1
XM_011513124.2 4045 Intron XP_011511426.1
Gene
GP5
Gene Name
glycoprotein V platelet
There are no transcripts associated with this gene.

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