Product Details

SNP ID
rs200921816
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:33265143 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCCCAGCCTGACTGACTGCATTG[A/G]CACGGTGGGCATTTGATCATGCATA
Phenotype
MIM: 601497 MIM: 610900
Polymorphism
A/G, Transition 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_001172415.1 265 Intron NP_001165886.1
NM_004323.5 265 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_001195536.1 265 Missense Mutation GAC,GGC D22G NP_001182465.1
NM_016410.5 265 Missense Mutation GAC,GGC D22G NP_057494.3

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