Product Details

SNP ID

rs140202481

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:32444573 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAGAGAGCCCAGTCTCTACTCA[A/G]CACCGACCGGGAGGCCTCCATCGAC

Phenotype

MIM: 604449

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PSMD11 PubMed Links

Gene Details

Gene

PSMD11

Gene Name

proteasome 26S subunit, non-ATPase 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270482.1	111	Missense Mutation	AAC,AGC	N17S	NP_001257411.1
NM_002815.3	111	Missense Mutation	AAC,AGC	N17S	NP_002806.2

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