Product Details

SNP ID
rs104893756
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:87262203 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAATTCAGAGCCATGCACAGCTG[C/G]CAGGGCCTCCCCAACATTTGTCTGG
Phenotype
MIM: 609512 MIM: 173110
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CHMP2B PubMed Links

Gene Details

Gene
CHMP2B
Gene Name
charged multivesicular body protein 2B
There are no transcripts associated with this gene.

Gene
POU1F1
Gene Name
POU class 1 homeobox 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000306.3 597 Missense Mutation CCA,GCA P158A NP_000297.1
NM_001122757.2 597 Missense Mutation CCA,GCA P184A NP_001116229.1

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