Product Details

SNP ID

rs11557388

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:151400050 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCGGAGTGGTGATTGCCGCAGA[A/C]ATGCTGGGATCCTACGGCTCCTTGG

Phenotype

MIM: 614787 MIM: 602177

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

POGZ PubMed Links

Gene Details

Gene

POGZ

Gene Name

pogo transposable element with ZNF domain

There are no transcripts associated with this gene.

Gene

PSMB4

Gene Name

proteasome subunit beta 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002796.2	233	Missense Mutation	GAA,GAC	E70D	NP_002787.2

View Full Product Details