Product Details

SNP ID

rs1071682

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44850353 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACAGGTGCTGTGTACACAATGTACA[G/A]CGATTACGTCAAGAGGATGGCACAG

Phenotype

MIM: 603892

Polymorphism

G/A, Transition Substitution

Allele Nomenclature

Literature Links

EFTUD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs2231648] are located under a primer 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142605.1	4238	UTR 3			NP_001136077.1
NM_001258353.1	4238	UTR 3			NP_001245282.1
NM_001258354.1	4238	UTR 3			NP_001245283.1
NM_004247.3	4238	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	4238	Missense Mutation	AAC,AGC	N86S	NP_001258809.1
NM_016438.3	4238	Missense Mutation	AAC,AGC	N86S	NP_057522.1
XM_006721946.2	4238	Missense Mutation	AAC,AGC	N86S	XP_006722009.1
XM_006721947.3	4238	Missense Mutation	AAC,AGC	N86S	XP_006722010.1
XM_006721948.3	4238	Missense Mutation	AAC,AGC	N86S	XP_006722011.1
XM_011524891.2	4238	Missense Mutation	AAC,AGC	N86S	XP_011523193.1
XM_017024742.1	4238	Missense Mutation	AAC,AGC	N86S	XP_016880231.1
XM_017024743.1	4238	Missense Mutation	AAC,AGC	N86S	XP_016880232.1

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