Product Details

SNP ID
rs1056754
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44851081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAATGGAGCCCGGCAGAGGCCACA[A/G]AAGGAAGCAGGAGGCCAAATGCTCC
Phenotype
MIM: 603892
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
EFTUD2 PubMed Links

Gene Details

Gene
EFTUD2
Gene Name
elongation factor Tu GTP binding domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142605.1 3510 UTR 3 NP_001136077.1
NM_001258353.1 3510 UTR 3 NP_001245282.1
NM_001258354.1 3510 UTR 3 NP_001245283.1
NM_004247.3 3510 UTR 3 NP_004238.3
Gene
HIGD1B
Gene Name
HIG1 hypoxia inducible domain family member 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271880.1 3510 Intron NP_001258809.1
NM_016438.3 3510 Intron NP_057522.1
XM_006721946.2 3510 Intron XP_006722009.1
XM_006721947.3 3510 Intron XP_006722010.1
XM_006721948.3 3510 Intron XP_006722011.1
XM_011524891.2 3510 Intron XP_011523193.1
XM_017024742.1 3510 Intron XP_016880231.1
XM_017024743.1 3510 Intron XP_016880232.1

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