Product Details

SNP ID
rs201759987
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6348122 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAGACCAGTATCGGCTTCGGAA[A/C]CTTCGGAGCAGCATGAGGAACATGA
Phenotype
MIM: 600228 MIM: 191190
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SCNN1A PubMed Links

Gene Details

Gene
SCNN1A
Gene Name
sodium channel epithelial 1 alpha subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001038.5 2202 Missense Mutation AGG,AGT R587S NP_001029.1
NM_001159575.1 2202 Missense Mutation AGG,AGT R610S NP_001153047.1
NM_001159576.1 2202 Missense Mutation AGG,AGT R646S NP_001153048.1
Gene
TNFRSF1A
Gene Name
TNF receptor superfamily member 1A
There are no transcripts associated with this gene.

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