Product Details

SNP ID
rs11540554
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:33265128 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACCCAAGGCTCCGCCGCCCAGCC[A/T]GACTGACTGCATTGGCACGGTGGGC
Phenotype
MIM: 601497 MIM: 610900
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
BAG1 PubMed Links

Gene Details

Gene
BAG1
Gene Name
BCL2 associated athanogene 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172415.1 250 Intron NP_001165886.1
NM_004323.5 250 Intron NP_004314.5
Gene
CHMP5
Gene Name
charged multivesicular body protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195536.1 250 Missense Mutation CAG,CTG Q17L NP_001182465.1
NM_016410.5 250 Missense Mutation CAG,CTG Q17L NP_057494.3

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