Product Details

SNP ID

hCV27529459

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:87262154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTTAAAGCTGAGCTGCAGATTT[C/T]CAAATCGGCAGATTGTTGTTTGACT

Phenotype

MIM: 609512 MIM: 173110

Polymorphism

C/T, Transition 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	646	Missense Mutation	GAA,GGA	E174G	NP_000297.1
NM_001122757.2	646	Missense Mutation	GAA,GGA	E200G	NP_001116229.1

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