Product Details

SNP ID
rs149772856
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143580163 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCAGCCCGTCCAGCTGGATAGAG[C/T]GCACACAGGCCTCCAGCTGGGCCAT
Phenotype
MIM: 130592 MIM: 611552
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
EEF1D PubMed Links

Gene Details

Gene
EEF1D
Gene Name
eukaryotic translation elongation factor 1 delta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005250820.3 7085 Missense Mutation CAC,CGC H626R XP_005250877.1
XM_005250823.1 7085 Intron XP_005250880.1
XM_006716519.3 7085 Missense Mutation CAC,CGC H625R XP_006716582.1
XM_006716520.3 7085 Missense Mutation CAC,CGC H602R XP_006716583.1
XM_006716522.1 7085 Missense Mutation CAC,CGC H585R XP_006716585.1
XM_006716523.1 7085 Missense Mutation CAC,CGC H585R XP_006716586.1
XM_006716524.1 7085 Missense Mutation CAC,CGC H585R XP_006716587.1
XM_006716525.1 7085 Missense Mutation CAC,CGC H219R XP_006716588.1
XM_011516905.2 7085 Intron XP_011515207.1
XM_011516906.2 7085 Intron XP_011515208.1
XM_017013168.1 7085 Intron XP_016868657.1
XM_017013169.1 7085 Intron XP_016868658.1
XM_017013170.1 7085 Intron XP_016868659.1
XM_017013171.1 7085 Intron XP_016868660.1
XM_017013172.1 7085 Missense Mutation CAC,CGC H561R XP_016868661.1
XM_017013173.1 7085 Intron XP_016868662.1
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 7085 Intron NP_001273758.1
NM_145201.5 7085 Intron NP_660202.3
XM_017013975.1 7085 Intron XP_016869464.1
XM_017013976.1 7085 Intron XP_016869465.1
XM_017013977.1 7085 Intron XP_016869466.1
XM_017013978.1 7085 Intron XP_016869467.1
XM_017013979.1 7085 Intron XP_016869468.1
XM_017013980.1 7085 Intron XP_016869469.1

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