Product Details

SNP ID

rs200662962

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:74301600 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTACCACACAGGCCCTAAACTAC[A/G]CAAGAATGACATTGCCATCAACGAA

Phenotype

MIM: 157970

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PSMD7 PubMed Links

Gene Details

Gene

PSMD7

Gene Name

proteasome 26S subunit, non-ATPase 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002811.4	445	Missense Mutation	CAC,CGC	H102R	NP_002802.2

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