Product Details

SNP ID

rs147010013

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:238061070 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGCGGGGATGGAGGCGGCCGTG[A/G]CGCCGGGGAGGGATGCGCCGGCACC

Phenotype

MIM: 611056

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SCLY PubMed Links

Gene Details

Gene

SCLY

Gene Name

selenocysteine lyase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016510.5	147	Missense Mutation	ACG,GCG	T14A	NP_057594.4

Gene

UBE2F-SCLY

Gene Name

UBE2F-SCLY readthrough (NMD candidate)

There are no transcripts associated with this gene.

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