Product Details

SNP ID

rs139759188

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:67340885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCTCCTCTTTGGCTATGAGATG[C/T]GTAGTTTTGTTAACCAGAGACATTA

Phenotype

MIM: 604450

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PSMD12 PubMed Links

Gene Details

Gene

PSMD12

Gene Name

proteasome 26S subunit, non-ATPase 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316341.1	1721	Silent Mutation	ACA,ACG	T384T	NP_001303270.1
NM_002816.4	1721	Silent Mutation	ACA,ACG	T443T	NP_002807.1
NM_174871.3	1721	Silent Mutation	ACA,ACG	T423T	NP_777360.1

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