Product Details

SNP ID

rs34878344

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:238102049 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCACTCGGCCACGCTAGAGACC[A/C]GGGAGGGAGCCCGGCCGCTGCACCA

Phenotype

MIM: 611056

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ESPNL PubMed Links

Gene Details

Gene

ESPNL

Gene Name

espin-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308370.1	513	Intron			NP_001295299.1
NM_194312.3	513	Silent Mutation	AGG,CGG	R135R	NP_919288.2
XM_011511087.1	513	Intron			XP_011509389.1

Gene

SCLY

Gene Name

selenocysteine lyase

There are no transcripts associated with this gene.

Gene

UBE2F-SCLY

Gene Name

UBE2F-SCLY readthrough (NMD candidate)

There are no transcripts associated with this gene.

View Full Product Details