Product Details

SNP ID
rs3731811
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:86507655 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATCTGTTCCCATCAGACACCCTA[C/T]ACATCACCTAGACCGAGCTCTAGCC
Phenotype
MIM: 610052
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CHMP3 PubMed Links

Gene Details

Gene
CHMP3
Gene Name
charged multivesicular body protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005753.2 Intron NP_001005753.1
NM_001193517.1 Intron NP_001180446.1
NM_016079.3 Intron NP_057163.1
Gene
RNF103-CHMP3
Gene Name
RNF103-CHMP3 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198954.1 Intron NP_001185883.1

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