Product Details

SNP ID

rs190867289

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:86505840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTGGCCAGCCGGGACTGCATGGC[C/T]TCCAGAGCCTCTTCCTCCTCCTCCT

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	721	Silent Mutation	GAA,GAG	E145E	NP_001005753.1
NM_001193517.1	721	Silent Mutation	GAA,GAG	E171E	NP_001180446.1
NM_016079.3	721	Silent Mutation	GAA,GAG	E211E	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	721	Silent Mutation	GAA,GAG	E240E	NP_001185883.1

View Full Product Details