Product Details

SNP ID
rs201842085
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:193275066 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTACAGCCTGGCCCAGAAATGCTG[C/T]TCTGTGGGTTGGCCTCCCAATTTGA
Phenotype
MIM: 606487
Polymorphism
C/T, Transition 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 3633 Silent Mutation GAA,GAG E1211E NP_940907.2
XM_011512770.1 3633 Intron XP_011511072.1
XM_017006304.1 3633 Silent Mutation GAA,GAG E793E XP_016861793.1
XM_017006305.1 3633 Silent Mutation GAA,GAG E652E 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 3633 Intron NP_065119.2
XM_011513034.1 3633 Intron XP_011511336.1
XM_011513035.2 3633 Intron XP_011511337.1
XM_011513037.2 3633 Intron XP_011511339.1
XM_017006923.1 3633 Intron XP_016862412.1

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