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SNP ID

rs146625286

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:80995037 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCAGACGGGCCAAGCTGCTGCT[A/C]AAGAAGAAGCGATACCAGGAGCAGC

Phenotype

MIM: 610901

Polymorphism

A/C, Transversion 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	270	Silent Mutation	CTA,CTC	L64L	NP_078867.2
XM_005257668.1	270	Silent Mutation	CTA,CTC	L64L	XP_005257725.1

Gene

LOC100129503

Gene Name

uncharacterized LOC100129503

There are no transcripts associated with this gene.

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