Product Details

SNP ID
rs144017136
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:12738162 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTGCTGGGTCAGAGCCTCTCCTT[C/T]GGAGTCCTGGAAACAAGAAACTCAA
Phenotype
Polymorphism
C/T, Transition 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_001284406.1 613 Missense Mutation CAA,CGA Q149R NP_001271335.1
NM_001284407.1 613 Missense Mutation CAA,CGA Q103R NP_001271336.1
NM_001284408.1 613 Missense Mutation CAA,CGA Q57R NP_001271337.1
NM_018306.3 613 Missense Mutation CAA,CGA Q133R NP_060776.2
XM_011533937.2 613 Missense Mutation CAA,CGA Q133R XP_011532239.1

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