Product Details

SNP ID
rs202216357
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89646573 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCTGCGCACAGAGCTCTCGCCCA[C/T]GGCAGAGGCGCCCTCGGGCAGCTGG
Phenotype
MIM: 164010 MIM: 179780
Polymorphism
C/T, 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_001083314.3 720 Missense Mutation CAT,CGT H168R NP_001076783.1
NM_002768.4 720 Missense Mutation ATG,GTG M175V NP_002759.2
XM_011523098.1 720 Intron XP_011521400.1
Gene
DPEP1
Gene Name
dipeptidase 1 (renal)
There are no transcripts associated with this gene.

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