Product Details

SNP ID

rs200442625

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:81732762 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGAAACAAGAGTACCTGGAAAAT[C/T]GAATCCAGAGAGAAATCGCCCTGGC

Phenotype

MIM: 610899

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHMP4C PubMed Links

Gene Details

Gene

CHMP4C

Gene Name

charged multivesicular body protein 4C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152284.3	310	Nonsense Mutation	CGA,TGA	R46*	NP_689497.1

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