Product Details

SNP ID

rs146805764

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44848189 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGACGCTGGTGGGTACCACCTGAC[A/G]ACGAAGACTGTGTGTCTGAGAAGCT

Phenotype

MIM: 603892

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

EFTUD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs12164] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	182	Missense Mutation	AAC,GAC	N13D	NP_001258809.1
NM_016438.3	182	Missense Mutation	AAC,GAC	N13D	NP_057522.1
XM_006721946.2	182	Missense Mutation	AAC,GAC	N13D	XP_006722009.1
XM_006721947.3	182	Missense Mutation	AAC,GAC	N13D	XP_006722010.1
XM_006721948.3	182	Missense Mutation	AAC,GAC	N13D	XP_006722011.1
XM_011524891.2	182	Missense Mutation	AAC,GAC	N13D	XP_011523193.1
XM_017024742.1	182	Missense Mutation	AAC,GAC	N13D	XP_016880231.1
XM_017024743.1	182	Missense Mutation	AAC,GAC	N13D	XP_016880232.1

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