Product Details

SNP ID

rs62092861

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:50974548 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACACAGACACAGCTTATGAAAAG[A/C]CAACTTAAAGCAGGTTAGTGTGCCT

Phenotype

MIM: 608079

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ELAC1 PubMed Links

Gene Details

Gene

ELAC1

Gene Name

elaC ribonuclease Z 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018696.2	250	Missense Mutation	AGA,AGC	R48S	NP_061166.1

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