Product Details

SNP ID
rs199661912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5501824 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGCTGCTGGGCACTAGTATCTC[C/T]TGGCGTCTCTGTTGCACCTGAGGTT
Phenotype
MIM: 606636
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC728392 PubMed Links

Gene Details

Gene
LOC728392
Gene Name
uncharacterized LOC728392
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001162371.2 4673 Intron NP_001155843.1
Gene
NLRP1
Gene Name
NLR family pyrin domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033053.2 4673 Missense Mutation AAG,AGG K1373R NP_001028225.1
NM_014922.4 4673 Intron NP_055737.1
NM_033004.3 4673 Intron NP_127497.1
NM_033006.3 4673 Intron NP_127499.1
NM_033007.3 4673 Intron NP_127500.1

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