Product Details

SNP ID

rs199526819

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6348197 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCATCTCCACCACAGACAACAC[C/T]GAGGAGCCGAACCACAGGCTCCACT

Phenotype

MIM: 600228 MIM: 191190

Polymorphism

C/T, Transition 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	2127	Silent Mutation	TCA,TCG	S562S	NP_001029.1
NM_001159575.1	2127	Silent Mutation	TCA,TCG	S585S	NP_001153047.1
NM_001159576.1	2127	Silent Mutation	TCA,TCG	S621S	NP_001153048.1

Gene

TNFRSF1A

Gene Name

TNF receptor superfamily member 1A

There are no transcripts associated with this gene.

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