Product Details

SNP ID
rs145772393
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:194404282 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGAAAACTTCGATTATATTTTTG[C/T]AGGAATCATCAGTGGCAATAGCAGT
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 5847 UTR 3 NP_078800.3
XM_005269357.3 5847 UTR 3 XP_005269414.1
XM_011513120.2 5847 UTR 3 XP_011511422.1
XM_011513121.1 5847 UTR 3 XP_011511423.1
XM_011513122.1 5847 UTR 3 XP_011511424.1
XM_011513123.2 5847 UTR 3 XP_011511425.1
XM_011513124.2 5847 Intron XP_011511426.1
Gene
GP5
Gene Name
glycoprotein V platelet
There are no transcripts associated with this gene.

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