Product Details

SNP ID
rs200352169
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:74623962 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTATAGATGTGGACCATCTTCTCT[A/G]TTAAGGTAGCCAAGTAGCTGTTACG
Phenotype
MIM: 614151
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RFWD3 PubMed Links

Gene Details

Gene
RFWD3
Gene Name
ring finger and WD repeat domain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018124.3 2342 Missense Mutation ACA,ATA T764I NP_060594.3
XM_005256021.4 2342 Missense Mutation ACA,ATA T764I XP_005256078.1
XM_005256022.4 2342 Missense Mutation ACA,ATA T764I XP_005256079.1
XM_006721228.3 2342 Missense Mutation ACA,ATA T705I XP_006721291.1
XM_011523191.2 2342 Missense Mutation ACA,ATA T764I XP_011521493.1
XM_017023391.1 2342 Missense Mutation ACA,ATA T764I XP_016878880.1
XM_017023392.1 2342 Missense Mutation ACA,ATA T705I XP_016878881.1

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