Product Details

SNP ID
rs200117973
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:193275198 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGTTTATGGGAGGCCAGGTTGA[C/G]TCTTCTGCTAGCTTCTTTTGCCAAG
Phenotype
MIM: 606487
Polymorphism
C/G, 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 3501 Missense Mutation GAC,GAG D1167E NP_940907.2
XM_011512770.1 3501 Intron XP_011511072.1
XM_017006304.1 3501 Missense Mutation GAC,GAG D749E XP_016861793.1
XM_017006305.1 3501 Missense Mutation GAC,GAG D608E 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 3501 Intron NP_065119.2
XM_011513034.1 3501 Intron XP_011511336.1
XM_011513035.2 3501 Intron XP_011511337.1
XM_011513037.2 3501 Intron XP_011511339.1
XM_017006923.1 3501 Intron XP_016862412.1

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