Product Details

SNP ID
rs201859308
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:54970023 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCCACGTGGGACAAGATGGTGT[C/T]TTCGGCGCAGATGGGCTTCAACCTG
Phenotype
MIM: 609364 MIM: 609661
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NLRP2 PubMed Links

Gene Details

Gene
NLRP2
Gene Name
NLR family pyrin domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001174081.1 150 Missense Mutation TCT,TTT S3F NP_001167552.1
NM_001174082.1 150 Missense Mutation TCT,TTT S3F NP_001167553.1
NM_001174083.1 150 Missense Mutation TCT,TTT S3F NP_001167554.1
NM_017852.3 150 Missense Mutation TCT,TTT S3F NP_060322.1
Gene
NLRP7
Gene Name
NLR family pyrin domain containing 7
There are no transcripts associated with this gene.

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