Product Details

SNP ID

hCV62238479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:86507562 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTGATCGTCCATGCTTTCAAAA[A/G]TGTCCTCTAACATCTCCTCTATGAT

Phenotype

MIM: 610052

Polymorphism

A/G, 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	528	Missense Mutation	ACT,ATT	T81I	NP_001005753.1
NM_001193517.1	528	Missense Mutation	ACT,ATT	T107I	NP_001180446.1
NM_016079.3	528	Missense Mutation	ACT,ATT	T147I	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	528	Missense Mutation	ACT,ATT	T176I	NP_001185883.1

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