Product Details

SNP ID
rs1064042
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:16986179 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGAGGGGTCCAGTTGGTGGCTCA[G/A]AGGCAGGGAGTTCCAGTGTCTGGGG
Phenotype
MIM: 610513 MIM: 156790
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
ATP13A2 PubMed Links

Gene Details

Gene
ATP13A2
Gene Name
ATPase 13A2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001141973.2 3622 UTR 3 NP_001135445.1
NM_001141974.2 3622 Silent Mutation CTG,TTG L1095L NP_001135446.1
NM_022089.3 3622 UTR 3 NP_071372.1
XM_005245810.1 3622 Silent Mutation CTG,TTG L1138L XP_005245867.1
XM_005245811.1 3622 Silent Mutation CTG,TTG L1134L XP_005245868.1
XM_005245812.1 3622 Silent Mutation CTG,TTG L1130L XP_005245869.1
XM_005245815.1 3622 Silent Mutation CTG,TTG L1100L XP_005245872.1
XM_006710512.1 3622 Silent Mutation CTG,TTG L1133L XP_006710575.1
XM_006710513.1 3622 Silent Mutation CTG,TTG L1125L XP_006710576.1
XM_011541128.1 3622 Silent Mutation CTG,TTG L1134L XP_011539430.1
XM_011541129.1 3622 Silent Mutation CTG,TTG L1070L XP_011539431.1
XM_017000844.1 3622 UTR 3 XP_016856333.1
XM_017000845.1 3622 UTR 3 XP_016856334.1
XM_017000846.1 3622 UTR 3 XP_016856335.1
XM_017000847.1 3622 UTR 3 XP_016856336.1
XM_017000848.1 3622 UTR 3 XP_016856337.1
XM_017000849.1 3622 UTR 3 XP_016856338.1
XM_017000850.1 3622 UTR 3 XP_016856339.1
Gene
MFAP2
Gene Name
microfibrillar associated protein 2
There are no transcripts associated with this gene.

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