Product Details

SNP ID
rs142633260
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:183560200 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCACTTGGCTGCCTTTCTTAAGC[C/T]GAGGTTCTGTTGTCTGGTTATTAGC
Phenotype
MIM: 608515 MIM: 610964
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NCF2 PubMed Links

Gene Details

Gene
NCF2
Gene Name
neutrophil cytosolic factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000433.3 1639 Missense Mutation CAG,CGG Q455R NP_000424.2
NM_001127651.2 1639 Missense Mutation CAG,CGG Q455R NP_001121123.1
NM_001190789.1 1639 Missense Mutation CAG,CGG Q374R NP_001177718.1
NM_001190794.1 1639 Missense Mutation CAG,CGG Q410R NP_001177723.1
XM_005245207.1 1639 Missense Mutation CAG,CGG Q419R XP_005245264.1
XM_011509580.1 1639 Missense Mutation CAG,CGG Q455R XP_011507882.1
XM_011509581.1 1639 Missense Mutation CAG,CGG Q455R XP_011507883.1
Gene
SMG7
Gene Name
SMG7, nonsense mediated mRNA decay factor
There are no transcripts associated with this gene.

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