Product Details

SNP ID
rs200674144
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5501835 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCACTAGTATCTCCTGGCGTCTCT[A/G]TTGCACCTGAGGTTCCACGGCTGGC
Phenotype
MIM: 606636
Polymorphism
A/G, 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 4662 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 4662 Silent Mutation AAC,AAT N1369N NP_001028225.1
NM_014922.4 4662 Intron NP_055737.1
NM_033004.3 4662 Intron NP_127497.1
NM_033006.3 4662 Intron NP_127499.1
NM_033007.3 4662 Intron NP_127500.1

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