Product Details

SNP ID

rs1044248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39981149 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGGCAAGACGGCGGCGGCAGCGG[C/T]TGAGCACTCCCAGCGAGAGCTGGAC

Phenotype

MIM: 611218

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GSDMA PubMed Links

Gene Details

Gene

GSDMA

Gene Name

gasdermin A

There are no transcripts associated with this gene.

Gene

PSMD3

Gene Name

proteasome 26S subunit, non-ATPase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002809.3	382	Missense Mutation	GCT,GTT	A60V	NP_002800.2

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