Product Details

SNP ID

rs2302566

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:25124081 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTGCCTTTAAACACCTGTCAAGTCT[C/G]TTTATGAACAGGTCCACATCCTGCA

Phenotype

MIM: 613009

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SEPSECS PubMed Links

Gene Details

Gene

SEPSECS

Gene Name

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016955.3	1543	Missense Mutation	AAC,AAG	N452K	NP_058651.3
XM_011513846.2	1543	Missense Mutation	AAC,AAG	N451K	XP_011512148.1
XM_011513847.2	1543	Missense Mutation	AAC,AAG	N441K	XP_011512149.1
XM_011513848.1	1543	Missense Mutation	AAC,AAG	N392K	XP_011512150.1
XM_017008277.1	1543	Missense Mutation	AAC,AAG	N537K	XP_016863766.1
XM_017008278.1	1543	Missense Mutation	AAC,AAG	N311K	XP_016863767.1

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