Product Details

SNP ID
rs201331139
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:193275141 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTTTCATAGCCTCCGTTGATGTA[C/G]AATCCATTTTTGCCATCACCTGAAT
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 3558 Missense Mutation TTC,TTG F1186L NP_940907.2
XM_011512770.1 3558 Intron XP_011511072.1
XM_017006304.1 3558 Missense Mutation TTC,TTG F768L XP_016861793.1
XM_017006305.1 3558 Missense Mutation TTC,TTG F627L 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 3558 Intron NP_065119.2
XM_011513034.1 3558 Intron XP_011511336.1
XM_011513035.2 3558 Intron XP_011511337.1
XM_011513037.2 3558 Intron XP_011511339.1
XM_017006923.1 3558 Intron XP_016862412.1

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