Product Details

SNP ID

rs104893764

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:87260082 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATTCTGTTCTCCAAAGTGTCTCT[T/C]CAGAGCATCTTTAGCAGCAATGCTG

Phenotype

MIM: 609512 MIM: 173110

Polymorphism

T/C, 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	813	Missense Mutation	AAG,GAG	K230E	NP_000297.1
NM_001122757.2	813	Missense Mutation	AAG,GAG	K256E	NP_001116229.1

View Full Product Details