Product Details

SNP ID
rs141565399
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143575310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGCCCAGCCTGTGGCACTGGCT[C/G]TTCTGCTAACTGCAGCATGTCCATG
Phenotype
MIM: 130592 MIM: 611552
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EEF1D PubMed Links

Gene Details

Gene
EEF1D
Gene Name
eukaryotic translation elongation factor 1 delta
There are no transcripts associated with this gene.

Gene
MROH6
Gene Name
maestro heat like repeat family member 6
There are no transcripts associated with this gene.

Gene
NAPRT
Gene Name
nicotinate phosphoribosyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286829.1 1223 Missense Mutation CAG,GAG Q443E NP_001273758.1
NM_145201.5 1223 Missense Mutation CAG,GAG Q443E NP_660202.3
XM_017013975.1 1223 Missense Mutation CAG,GAG Q516E XP_016869464.1
XM_017013976.1 1223 Missense Mutation CAG,GAG Q516E XP_016869465.1
XM_017013977.1 1223 Missense Mutation CAG,GAG Q416E XP_016869466.1
XM_017013978.1 1223 Intron XP_016869467.1
XM_017013979.1 1223 Missense Mutation CAG,GAG Q215E XP_016869468.1
XM_017013980.1 1223 Missense Mutation CAG,GAG Q215E XP_016869469.1

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