Product Details

SNP ID

rs201384608

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:247418922 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAAGGGCTGCATCCCCCTCCCGA[A/G]GGGTCAGACAGAGAAGGCAGACCAT

Phenotype

MIM: 606416

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NLRP3 PubMed Links

Gene Details

Gene

NLRP3

Gene Name

NLR family pyrin domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079821.2	874	Missense Mutation	AAG,AGG	K43R	NP_001073289.1
NM_001127461.2	874	Missense Mutation	AAG,AGG	K43R	NP_001120933.1
NM_001127462.2	874	Missense Mutation	AAG,AGG	K43R	NP_001120934.1
NM_001243133.1	874	Missense Mutation	AAG,AGG	K41R	NP_001230062.1
NM_004895.4	874	Missense Mutation	AAG,AGG	K43R	NP_004886.3
NM_183395.2	874	Missense Mutation	AAG,AGG	K43R	NP_899632.1
XM_011544048.2	874	Missense Mutation	AAG,AGG	K43R	XP_011542350.1
XM_011544053.2	874	Missense Mutation	AAG,AGG	K43R	XP_011542355.1
XM_011544055.2	874	Missense Mutation	AAG,AGG	K43R	XP_011542357.1
XM_017000181.1	874	Missense Mutation	AAG,AGG	K43R	XP_016855670.1
XM_017000182.1	874	Missense Mutation	AAG,AGG	K43R	XP_016855671.1
XM_017000183.1	874	Missense Mutation	AAG,AGG	K43R	XP_016855672.1
XM_017000184.1	874	Missense Mutation	AAG,AGG	K43R	XP_016855673.1

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