Product Details

SNP ID

rs144766964

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:156724224 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCATTCTCCGGGCAGTCAGCCTTC[C/T]GGTTGAGGGGGGGGATATGGGAGGT

Phenotype

MIM: 611930

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ISG20L2 PubMed Links

Gene Details

Gene

ISG20L2

Gene Name

interferon stimulated exonuclease gene 20 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303095.1	1043	Missense Mutation	CAG,CGG	Q291R	NP_001290024.1
XM_005245516.4	1043	Missense Mutation	CAG,CGG	Q291R	XP_005245573.1
XM_005245518.4	1043	Missense Mutation	CAG,CGG	Q76R	XP_005245575.1
XM_006711560.3	1043	Missense Mutation	CAG,CGG	Q291R	XP_006711623.1
XM_006711561.3	1043	Missense Mutation	CAG,CGG	Q291R	XP_006711624.1

Gene

RRNAD1

Gene Name

ribosomal RNA adenine dimethylase domain containing 1

There are no transcripts associated with this gene.

View Full Product Details