Product Details

SNP ID

rs190721712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89646568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCTGGCTGCGCACAGAGCTCTC[A/G]CCCACGGCAGAGGCGCCCTCGGGCA

Phenotype

MIM: 164010 MIM: 179780

Polymorphism

A/G, Transition 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	725	Nonsense Mutation	CGA,TGA	R170*	NP_001076783.1
NM_002768.4	725	Silent Mutation	GGC,GGT	G176G	NP_002759.2
XM_011523098.1	725	Intron			XP_011521400.1

Gene

DPEP1

Gene Name

dipeptidase 1 (renal)

There are no transcripts associated with this gene.

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