Product Details

SNP ID

rs146108048

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121921606 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGGAAGAAACCACAGTAGAGCCC[C/T]AAGAAGTCACAGCGTCCATGATCCG

Phenotype

MIM: 603146

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PSMD9 PubMed Links

Gene Details

Gene

PSMD9

Gene Name

proteasome 26S subunit, non-ATPase 9

There are no transcripts associated with this gene.

Gene

WDR66

Gene Name

WD repeat domain 66

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178003.1	473	Nonsense Mutation	CAA,TAA	Q101*	NP_001171474.1
NM_144668.5	473	Nonsense Mutation	CAA,TAA	Q101*	NP_653269.3

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