Product Details

SNP ID
rs199685258
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:32224730 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGATTTCCCGCCAAATTCAACTGCT[A/G]GAAGTTTTTCAGAGGGTTCTTTCCA
Phenotype
MIM: 606831 MIM: 611148
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NLRC4 PubMed Links

Gene Details

Gene
NLRC4
Gene Name
NLR family CARD domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199138.1 2962 Nonsense Mutation CAG,TAG Q940* NP_001186067.1
NM_001199139.1 2962 Nonsense Mutation CAG,TAG Q940* NP_001186068.1
NM_001302504.1 2962 Nonsense Mutation CAG,TAG Q275* NP_001289433.1
NM_021209.4 2962 Nonsense Mutation CAG,TAG Q940* NP_067032.3
XM_017004619.1 2962 Intron XP_016860108.1
Gene
SLC30A6
Gene Name
solute carrier family 30 member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_006712048.3 2962 UTR 3 XP_006712111.1
XM_011532959.2 2962 UTR 3 XP_011531261.1
XM_011532960.2 2962 UTR 3 XP_011531262.1
XM_011532961.2 2962 UTR 3 XP_011531263.1
XM_011532962.2 2962 UTR 3 XP_011531264.1
XM_011532963.2 2962 Intron XP_011531265.1
XM_017004462.1 2962 UTR 3 XP_016859951.1
XM_017004463.1 2962 Intron XP_016859952.1
XM_017004464.1 2962 Intron XP_016859953.1
XM_017004465.1 2962 Intron XP_016859954.1
XM_017004466.1 2962 Intron XP_016859955.1

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