Product Details

SNP ID
rs199964833
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44848157 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTACATCCAGGTCCAGGATTATGT[C/T]TGCTAACAGACGCTGGTGGGTACCA
Phenotype
MIM: 603892
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
EFTUD2 PubMed Links

Gene Details

Gene
EFTUD2
Gene Name
elongation factor Tu GTP binding domain containing 2
There are no transcripts associated with this gene.

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_001271880.1 150 Missense Mutation TCT,TTT S2F NP_001258809.1
NM_016438.3 150 Missense Mutation TCT,TTT S2F NP_057522.1
XM_006721946.2 150 Missense Mutation TCT,TTT S2F XP_006722009.1
XM_006721947.3 150 Missense Mutation TCT,TTT S2F XP_006722010.1
XM_006721948.3 150 Missense Mutation TCT,TTT S2F XP_006722011.1
XM_011524891.2 150 Missense Mutation TCT,TTT S2F XP_011523193.1
XM_017024742.1 150 Missense Mutation TCT,TTT S2F XP_016880231.1
XM_017024743.1 150 Missense Mutation TCT,TTT S2F XP_016880232.1

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