Product Details

SNP ID
rs148204524
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48956270 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTGGCAGCTGACATGTTTTCTGA[C/T]GGCAACTTCAACTGGGGCCGGGTTG
Phenotype
MIM: 600040 MIM: 134790
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BAX PubMed Links

Gene Details

Gene
BAX
Gene Name
BCL2 associated X, apoptosis regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291428.1 375 Silent Mutation GAC,GAT D102D NP_001278357.1
NM_001291429.1 375 Silent Mutation GAC,GAT D65D NP_001278358.1
NM_001291430.1 375 Silent Mutation GAC,GAT D24D NP_001278359.1
NM_001291431.1 375 Silent Mutation GAC,GAT D24D NP_001278360.1
NM_004324.3 375 Silent Mutation GAC,GAT D102D NP_004315.1
NM_138761.3 375 Silent Mutation GAC,GAT D102D NP_620116.1
NM_138763.3 375 Silent Mutation GAC,GAT D53D NP_620118.1
NM_138764.4 375 Silent Mutation GAC,GAT D102D NP_620119.2
XM_017027077.1 375 Silent Mutation GAC,GAT D83D XP_016882566.1
Gene
FTL
Gene Name
ferritin light chain
There are no transcripts associated with this gene.

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