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SNP ID

rs200889805

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89645958 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGTGAGAGACGCAGAGTGGCTG[C/G]CGGCCGCAGCCCCGCGGGGTCAGCA

Phenotype

MIM: 164010 MIM: 179780

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CHMP1A PubMed Links

Gene Details

Gene

CHMP1A

Gene Name

charged multivesicular body protein 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083314.3	896	Missense Mutation	CCA,GCA	P227A	NP_001076783.1
NM_002768.4	896	UTR 3			NP_002759.2
XM_011523098.1	896	Intron			XP_011521400.1

Gene

DPEP1

Gene Name

dipeptidase 1 (renal)

There are no transcripts associated with this gene.

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