Product Details

SNP ID
rs144724475
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:193279415 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGTCAGAAAACAGAATGAAAATT[G/T]TGAGGCCCAAGGCAGCTAGCAGCAG
Phenotype
MIM: 606487
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ATP13A5 PubMed Links

Gene Details

Gene
ATP13A5
Gene Name
ATPase 13A5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198505.2 3266 Missense Mutation AAA,ACA K1089T NP_940907.2
XM_011512770.1 3266 Intron XP_011511072.1
XM_017006304.1 3266 Missense Mutation AAA,ACA K671T XP_016861793.1
XM_017006305.1 3266 Missense Mutation AAA,ACA K530T XP_016861794.1
Gene
HRASLS
Gene Name
HRAS like suppressor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020386.4 3266 Intron NP_065119.2
XM_011513034.1 3266 Intron XP_011511336.1
XM_011513035.2 3266 Intron XP_011511337.1
XM_011513037.2 3266 Intron XP_011511339.1
XM_017006923.1 3266 Intron XP_016862412.1

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