Product Details

SNP ID

rs202104062

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:56003724 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGATCCTCTTTTAAGTCTTGTCA[C/T]TCTTTCCACAGGTCCTACTTGCTCT

Phenotype

MIM: 609658

Polymorphism

C/T, Transition 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	71	Missense Mutation	ACT,ATT	T24I	NP_703148.4

View Full Product Details