Product Details

SNP ID
rs202190487
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48956230 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGCCGTGGACACAGACTCCCCCC[A/G]AGAGGTCTTTTTCCGAGTGGCAGCT
Phenotype
MIM: 600040 MIM: 134790
Polymorphism
A/G, 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_001291428.1 335 Missense Mutation CAA,CGA Q89R NP_001278357.1
NM_001291429.1 335 Missense Mutation CAA,CGA Q52R NP_001278358.1
NM_001291430.1 335 Missense Mutation CAA,CGA Q11R NP_001278359.1
NM_001291431.1 335 Missense Mutation CAA,CGA Q11R NP_001278360.1
NM_004324.3 335 Missense Mutation CAA,CGA Q89R NP_004315.1
NM_138761.3 335 Missense Mutation CAA,CGA Q89R NP_620116.1
NM_138763.3 335 Missense Mutation CAA,CGA Q40R NP_620118.1
NM_138764.4 335 Missense Mutation CAA,CGA Q89R NP_620119.2
XM_017027077.1 335 Missense Mutation CAA,CGA Q70R XP_016882566.1
Gene
FTL
Gene Name
ferritin light chain
There are no transcripts associated with this gene.

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