Product Details

SNP ID

rs139705648

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:35603338 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATTTTTGTCAATGATTCGAACAC[C/T]GAAGGTTGGCAGATTCAGGATGAAG

Phenotype

MIM: 602175 MIM: 614428

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PSMB2 PubMed Links

Gene Details

Gene

PSMB2

Gene Name

proteasome subunit beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199779.1	579	Missense Mutation	AGT,GGT	S154G	NP_001186708.1
NM_001199780.1	579	Missense Mutation	AGT,GGT	S62G	NP_001186709.1
NM_002794.4	579	Missense Mutation	AGT,GGT	S179G	NP_002785.1

Gene

TFAP2E

Gene Name

transcription factor AP-2 epsilon

There are no transcripts associated with this gene.

View Full Product Details