Product Details

SNP ID
rs189558030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:119586465 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCAAGTGAGCATCGAGAGTGGTC[A/G]GATGACCCACCACCACCCAACAGGC
Phenotype
MIM: 603081
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ADPRH PubMed Links

Gene Details

Gene
ADPRH
Gene Name
ADP-ribosylarginine hydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001125.3 600 Missense Mutation CAG,CGG Q160R NP_001116.1
NM_001291949.1 600 Missense Mutation CAG,CGG Q160R NP_001278878.1
NM_001291950.1 600 Missense Mutation CAG,CGG Q53R NP_001278879.1
XM_011512438.2 600 Missense Mutation CAG,CGG Q160R XP_011510740.1

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