Product Details

SNP ID
rs200331428
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49742211 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGAGGCGGGAAGTGAGAGGAGT[C/T]TGGGGCTGGGGCTGCCTTCCAGGCC
Phenotype
MIM: 600748
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TMBIM6 PubMed Links

Gene Details

Gene
TMBIM6
Gene Name
transmembrane BAX inhibitor motif containing 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098576.1 403 Silent Mutation GTC,GTT V25V NP_001092046.1
NM_003217.2 403 Intron NP_003208.2
XM_005269126.3 403 Silent Mutation GTC,GTT V25V XP_005269183.1

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