Product Details

SNP ID
rs144179827
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48955554 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTTCCTTTCTCCTCTAGGGCCCA[C/T]CAGCTCTGAGCAGATCATGAAGACA
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_001291428.1 110 Missense Mutation ACC,ATC T14I NP_001278357.1
NM_001291429.1 110 Intron NP_001278358.1
NM_001291430.1 110 Intron NP_001278359.1
NM_001291431.1 110 Intron NP_001278360.1
NM_004324.3 110 Missense Mutation ACC,ATC T14I NP_004315.1
NM_138761.3 110 Missense Mutation ACC,ATC T14I NP_620116.1
NM_138763.3 110 Missense Mutation ACC,ATC T14I NP_620118.1
NM_138764.4 110 Missense Mutation ACC,ATC T14I NP_620119.2
XM_017027077.1 110 UTR 5 XP_016882566.1
Gene
FTL
Gene Name
ferritin light chain
There are no transcripts associated with this gene.

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