Product Details

SNP ID

rs149054498

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47420307 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTGGATCTGCATGATTCTGGCCC[A/G]GGCCTCCTCATTGGGCATCGGGAAC

Phenotype

MIM: 186852 MIM: 608735

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PSMC3 PubMed Links

Gene Details

Gene

PSMC3

Gene Name

proteasome 26S subunit, ATPase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002804.4	1278	Missense Mutation	CGG,TGG	R362W	NP_002795.2
XM_017018026.1	1278	Missense Mutation	CGG,TGG	R362W	XP_016873515.1

Gene

SLC39A13

Gene Name

solute carrier family 39 member 13

There are no transcripts associated with this gene.

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