Product Details

SNP ID
rs199973876
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:12737751 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCTTAACTGAGAGGCCTCCACT[G/T]CTCCTTAAGAACAAGAGAGAGATGA
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TMEM40 PubMed Links

Gene Details

Gene
TMEM40
Gene Name
transmembrane protein 40
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284406.1 643 Missense Mutation GAA,GCA E159A NP_001271335.1
NM_001284407.1 643 Missense Mutation GAA,GCA E113A NP_001271336.1
NM_001284408.1 643 Missense Mutation GAA,GCA E67A NP_001271337.1
NM_018306.3 643 Missense Mutation GAA,GCA E143A NP_060776.2
XM_011533937.2 643 Missense Mutation GAA,GCA E143A XP_011532239.1

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