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SNP ID

rs72657549

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6348728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCTCCATCCAGGCACGACCTACC[A/G]TGACAGAGGGAGACTCAGAATTGGT

Phenotype

MIM: 600228 MIM: 191190

Polymorphism

A/G, 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	2069	Missense Mutation	ACG,ATG	T543M	NP_001029.1
NM_001159575.1	2069	Missense Mutation	ACG,ATG	T566M	NP_001153047.1
NM_001159576.1	2069	Missense Mutation	ACG,ATG	T602M	NP_001153048.1

Gene

TNFRSF1A

Gene Name

TNF receptor superfamily member 1A

There are no transcripts associated with this gene.

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