Product Details

SNP ID
rs144697586
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:23186434 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCCGCGGCCGTCTGCGCCGCCTC[A/C]TCTGGATCGGGTTCACACTGACTGC
Phenotype
MIM: 600761
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
SCNN1G PubMed Links

Gene Details

Gene
SCNN1G
Gene Name
sodium channel epithelial 1 gamma subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039.3 302 Missense Mutation ATC,CTC I55L NP_001030.2

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