Product Details

SNP ID

rs1804237

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:35603313 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAATGTTATCCAGGTCATGGATG[A/C]CATTTTTGTCAATGATTCGAACACT

Phenotype

MIM: 602175 MIM: 614428

Polymorphism

A/C, Transversion 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	604	Missense Mutation	GGC,GTC	G162V	NP_001186708.1
NM_001199780.1	604	Missense Mutation	GGC,GTC	G70V	NP_001186709.1
NM_002794.4	604	Missense Mutation	GGC,GTC	G187V	NP_002785.1

Gene

TFAP2E

Gene Name

transcription factor AP-2 epsilon

There are no transcripts associated with this gene.

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