Product Details

SNP ID

rs199864903

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:156724282 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGAGGGACTTGGGGTGAAAGTACT[A/G]AAGGGCTTTGAAGTCGTTGTGGATG

Phenotype

MIM: 611930

Polymorphism

A/G, 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	985	Nonsense Mutation	CAG,TAG	Q272*	NP_001290024.1
XM_005245516.4	985	Nonsense Mutation	CAG,TAG	Q272*	XP_005245573.1
XM_005245518.4	985	Nonsense Mutation	CAG,TAG	Q57*	XP_005245575.1
XM_006711560.3	985	Nonsense Mutation	CAG,TAG	Q272*	XP_006711623.1
XM_006711561.3	985	Nonsense Mutation	CAG,TAG	Q272*	XP_006711624.1

Gene

RRNAD1

Gene Name

ribosomal RNA adenine dimethylase domain containing 1

There are no transcripts associated with this gene.

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