Product Details

SNP ID

rs104893760

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:87260022 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTACTTCTTTCTCCAGATTCAGTT[A/C]TTCAGCCATCCTCATGATCTCTTGA

Phenotype

MIM: 609512 MIM: 173110

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

CHMP2B PubMed Links

Additional Information

For this assay, SNP(s) [rs76296626] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	873	Nonsense Mutation	GAA,TAA	E250*	NP_000297.1
NM_001122757.2	873	Nonsense Mutation	GAA,TAA	E276*	NP_001116229.1

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