Product Details

SNP ID
rs76298930
Assay Type
Functionally tested
NCBI dbSNP Submissions
22
Location
Chr.1:16985990 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATATCATGACTTTATTTGCTACA[C/T]TGACAGCAGCACTGAGGGGAGCTGG
Phenotype
MIM: 610513 MIM: 156790
Polymorphism
C/T, 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 3811 UTR 3 NP_001135445.1
NM_001141974.2 3811 Missense Mutation ATG,GTG M1158V NP_001135446.1
NM_022089.3 3811 UTR 3 NP_071372.1
XM_005245810.1 3811 Missense Mutation ATG,GTG M1201V XP_005245867.1
XM_005245811.1 3811 Missense Mutation ATG,GTG M1197V XP_005245868.1
XM_005245812.1 3811 Missense Mutation ATG,GTG M1193V XP_005245869.1
XM_005245815.1 3811 Missense Mutation ATG,GTG M1163V XP_005245872.1
XM_006710512.1 3811 Missense Mutation ATG,GTG M1196V XP_006710575.1
XM_006710513.1 3811 Missense Mutation ATG,GTG M1188V XP_006710576.1
XM_011541128.1 3811 Missense Mutation ATG,GTG M1197V XP_011539430.1
XM_011541129.1 3811 Missense Mutation ATG,GTG M1133V XP_011539431.1
XM_017000844.1 3811 UTR 3 XP_016856333.1
XM_017000845.1 3811 UTR 3 XP_016856334.1
XM_017000846.1 3811 UTR 3 XP_016856335.1
XM_017000847.1 3811 UTR 3 XP_016856336.1
XM_017000848.1 3811 UTR 3 XP_016856337.1
XM_017000849.1 3811 UTR 3 XP_016856338.1
XM_017000850.1 3811 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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