Product Details

SNP ID

rs146664368

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:80995105 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCAGATCAGCAGCCTGGAGGCCA[C/T]GGTAGGCGGCCGGGTGCTTCGCCCT

Phenotype

MIM: 610901

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHMP6 PubMed Links

Gene Details

Gene

CHMP6

Gene Name

charged multivesicular body protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024591.4	338	Missense Mutation	ACG,ATG	T87M	NP_078867.2
XM_005257668.1	338	Missense Mutation	ACG,ATG	T87M	XP_005257725.1

Gene

LOC100129503

Gene Name

uncharacterized LOC100129503

There are no transcripts associated with this gene.

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