Product Details

SNP ID

hCV27860521

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:25809095 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGAAGACCCGCTTTGCCCCTCAG[A/G]GAGCTGTGGCCTGCCTGACTGCCAT

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	872	Missense Mutation	AGA,GGA	R273G	NP_065184.2
NM_206926.1	872	Missense Mutation	AGA,GGA	R239G	NP_996809.1

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