Product Details

SNP ID

rs56169842

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:25808728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGGATCATCCCCAGTGAGCTGA[A/G]CATGTTCACTGGCTACCTGTCCAAC

Phenotype

MIM: 606210

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SEPN1 PubMed Links

Gene Details

Gene

SEPN1

Gene Name

selenoprotein N, 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020451.2	741	Missense Mutation	AAC,AGC	N229S	NP_065184.2
NM_206926.1	741	Missense Mutation	AAC,AGC	N195S	NP_996809.1

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