Product Details

SNP ID

rs200099375

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48918317 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCAGAAGGTAACTGGAAGTCATG[A/G]TGACAACTCCTATACTGTGAAAAGA

Phenotype

MIM: 605615

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARIH2 PubMed Links

Gene Details

Gene

ARIH2

Gene Name

ariadne RBR E3 ubiquitin protein ligase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317333.1	1069	Intron			NP_001304262.1
NM_001317334.1	1069	Intron			NP_001304263.1
NM_006321.3	1069	Intron			NP_006312.1
XM_011533265.1	1069	Intron			XP_011531567.1
XM_011533266.1	1069	Intron			XP_011531568.1
XM_011533267.1	1069	Intron			XP_011531569.1
XM_011533268.1	1069	Intron			XP_011531570.1
XM_011533270.1	1069	Intron			XP_011531572.1
XM_011533271.1	1069	Intron			XP_011531573.1
XM_011533273.1	1069	Intron			XP_011531575.1
XM_011533275.2	1069	Intron			XP_011531577.1
XM_011533276.1	1069	Intron			XP_011531578.1
XM_017005531.1	1069	Intron			XP_016861020.1
XM_017005532.1	1069	Intron			XP_016861021.1
XM_017005533.1	1069	Intron			XP_016861022.1
XM_017005534.1	1069	Intron			XP_016861023.1
XM_017005535.1	1069	Intron			XP_016861024.1
XM_017005536.1	1069	Intron			XP_016861025.1
XM_017005537.1	1069	Intron			XP_016861026.1
XM_017005538.1	1069	Intron			XP_016861027.1
XM_017005539.1	1069	Intron			XP_016861028.1
XM_017005540.1	1069	Intron			XP_016861029.1
XM_017005541.1	1069	Intron			XP_016861030.1

Gene

ARIH2OS

Gene Name

ariadne homolog 2 opposite strand

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001123040.1	1069	Missense Mutation	ACC,ATC	T278I	NP_001116512.1

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