Product Details

SNP ID
rs144785979
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:76117759 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTGCATCCTGATTTGAGACATCA[A/T]TTCATTTAGTCGGCCCTAAAAGTTA
Phenotype
MIM: 603086 MIM: 607607
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ART3 PubMed Links

Gene Details

Gene
ART3
Gene Name
ADP-ribosyltransferase 3
There are no transcripts associated with this gene.

Gene
NUP54
Gene Name
nucleoporin 54
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278603.1 1418 Missense Mutation ATG,TTG M386L NP_001265532.1
NM_017426.3 1418 Missense Mutation ATG,TTG M434L NP_059122.2
XM_006714237.1 1418 Missense Mutation ATG,TTG M254L XP_006714300.1
XM_011532033.2 1418 Missense Mutation ATG,TTG M398L XP_011530335.1
XM_011532034.2 1418 Missense Mutation ATG,TTG M254L XP_011530336.1
XM_017008294.1 1418 Missense Mutation ATG,TTG M254L XP_016863783.1
XM_017008295.1 1418 Missense Mutation ATG,TTG M254L XP_016863784.1

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