Product Details

SNP ID

rs200240346

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:182576278 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTTTTTATGCTTTTCTTCATCAA[C/T]GTGTTCTCCCAAATTCCGGATGAAC

Phenotype

MIM: 180435

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RNASEL PubMed Links

Gene Details

Gene

RNASEL

Gene Name

ribonuclease L

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021133.3	2274	Missense Mutation	ATT,GTT	I673V	NP_066956.1

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