Product Details

SNP ID
rs141992347
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:130762461 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGCCGGCGCATGATCGACTACC[A/G]CCACTTTGTGCCCCAGATGCCCTTT
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AMER3 PubMed Links

Gene Details

Gene
AMER3
Gene Name
APC membrane recruitment protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105193.1 499 Missense Mutation CAC,CGC H130R NP_001098663.1
NM_001105194.1 499 Missense Mutation CAC,CGC H130R NP_001098664.1
NM_001105195.1 499 Missense Mutation CAC,CGC H130R NP_001098665.1
NM_152698.2 499 Missense Mutation CAC,CGC H130R NP_689911.2
XM_011510793.2 499 Missense Mutation CAC,CGC H130R XP_011509095.1
Gene
POTEI
Gene Name
POTE ankyrin domain family member I
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001277406.1 499 Intron NP_001264335.1
XM_011511670.2 499 Intron XP_011509972.1
XM_017004732.1 499 Intron XP_016860221.1
XM_017004733.1 499 Intron XP_016860222.1
XM_017004734.1 499 Intron XP_016860223.1
XM_017004735.1 499 Intron XP_016860224.1

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