Product Details

SNP ID

rs77942970

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55947936 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGAATCCACCCTCTGACACCCCC[A/C]TTCCCTTTTCATCCTCCTCCACTCA

Phenotype

MIM: 609659

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NLRP8 PubMed Links

Gene Details

Gene

NLRP8

Gene Name

NLR family pyrin domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317000.1	105	Missense Mutation	ATT,CTT	I12L	NP_001303929.1
NM_176811.2	105	Missense Mutation	ATT,CTT	I12L	NP_789781.2

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