Product Details

SNP ID

rs201522971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:50974459 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTGCAGCATACCCATCTCCAACC[C/T]GGGGTGCCTCTGCTGTGGTCCTTCG

Phenotype

MIM: 608079

Polymorphism

C/T, Transition 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	161	Missense Mutation	CGG,TGG	R19W	NP_061166.1

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