Product Details

SNP ID

rs140879959

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:86505885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCTCATCCTCTGAGGCAGCCAT[C/T]GCTCCTGGAGGTTCTGGCTCTGGAA

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	676	Silent Mutation	GCA,GCG	A130A	NP_001005753.1
NM_001193517.1	676	Silent Mutation	GCA,GCG	A156A	NP_001180446.1
NM_016079.3	676	Silent Mutation	GCA,GCG	A196A	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	676	Silent Mutation	GCA,GCG	A225A	NP_001185883.1

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