Product Details

SNP ID
rs139984617
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:12736803 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAACACACCAGCAAGGCCCCGATGG[A/C]AAAGCACAGGAGGACGAAATGGAAA
Phenotype
Polymorphism
A/C, 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_001284406.1 720 Missense Mutation GCC,TCC A185S NP_001271335.1
NM_001284407.1 720 Missense Mutation GCC,TCC A139S NP_001271336.1
NM_001284408.1 720 Missense Mutation GCC,TCC A93S NP_001271337.1
NM_018306.3 720 Missense Mutation GCC,TCC A169S NP_060776.2
XM_011533937.2 720 Missense Mutation GCC,TCC A169S XP_011532239.1

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