Product Details

SNP ID

rs199871361

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:56003953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACATGCTCTATTCCACAGTTTGA[A/C]ATCGAGAATGCCAACGTGGAATGTC

Phenotype

MIM: 609658

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NLRP5 PubMed Links

Gene Details

Gene

NLRP5

Gene Name

NLR family pyrin domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153447.4	300	Missense Mutation	GAA,GAC	E100D	NP_703148.4

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