Product Details

SNP ID

rs200685743

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:156729151 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTCTCTCATGAGGGGAGGAAGC[A/G]GCTAGCTGTTAACCTCACCCGTGTC

Phenotype

MIM: 611930 MIM: 611836

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	254	Intron			NP_001290024.1
XM_005245516.4	254	Intron			XP_005245573.1
XM_005245518.4	254	Intron			XP_005245575.1
XM_006711560.3	254	Intron			XP_006711623.1
XM_006711561.3	254	Intron			XP_006711624.1

Gene

MRPL24

Gene Name

mitochondrial ribosomal protein L24

There are no transcripts associated with this gene.

Gene

RRNAD1

Gene Name

ribosomal RNA adenine dimethylase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142560.1	254	Missense Mutation	CAG,CGG	Q16R	NP_001136032.1
NM_015997.3	254	Missense Mutation	CAG,CGG	Q16R	NP_057081.3
XM_005245234.4	254	Missense Mutation	CAG,CGG	Q16R	XP_005245291.1
XM_005245235.4	254	Missense Mutation	CAG,CGG	Q16R	XP_005245292.1
XM_005245236.4	254	Missense Mutation	CAG,CGG	Q16R	XP_005245293.1
XM_005245237.4	254	Missense Mutation	CAG,CGG	Q16R	XP_005245294.1
XM_011509600.1	254	Intron			XP_011507902.1
XM_017001404.1	254	UTR 5			XP_016856893.1
XM_017001405.1	254	UTR 5			XP_016856894.1
XM_017001406.1	254	UTR 5			XP_016856895.1

View Full Product Details