Product Details

SNP ID

rs201791497

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:231062637 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTTGGAGCAGGGGACCTCTTCA[A/G]TGTCAATGATAACTCTGAATATGTG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PSMD1 PubMed Links

Gene Details

Gene

PSMD1

Gene Name

proteasome 26S subunit, non-ATPase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001191037.1	428	Missense Mutation	AAT,AGT	N89S	NP_001177966.1
NM_002807.3	428	Missense Mutation	AAT,AGT	N89S	NP_002798.2
XM_017004517.1	428	Missense Mutation	AAT,AGT	N89S	XP_016860006.1

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