Product Details

SNP ID

rs142682593

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44849347 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTCCATACACCTGATTCACACCC[C/G]AGTGGCAGCGCAGGCCTGTGCAGTG

Phenotype

MIM: 603892

Polymorphism

C/G, Transversion 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	339	Intron			NP_001136077.1
NM_001258353.1	339	Intron			NP_001245282.1
NM_001258354.1	339	Intron			NP_001245283.1
NM_004247.3	339	Intron			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	339	Missense Mutation	CCA,CGA	P65R	NP_001258809.1
NM_016438.3	339	Missense Mutation	CCA,CGA	P65R	NP_057522.1
XM_006721946.2	339	Missense Mutation	CCA,CGA	P65R	XP_006722009.1
XM_006721947.3	339	Missense Mutation	CCA,CGA	P65R	XP_006722010.1
XM_006721948.3	339	Missense Mutation	CCA,CGA	P65R	XP_006722011.1
XM_011524891.2	339	Missense Mutation	CCA,CGA	P65R	XP_011523193.1
XM_017024742.1	339	Missense Mutation	CCA,CGA	P65R	XP_016880231.1
XM_017024743.1	339	Missense Mutation	CCA,CGA	P65R	XP_016880232.1

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