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SNP ID

rs144166621

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44852517 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCGGGATAAAAGCTTTGATGGT[A/G]TACAGAGGGGAGCCTGGGATGGGTG

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	3005	Silent Mutation	TAC,TAT	Y834Y	NP_001136077.1
NM_001258353.1	3005	Silent Mutation	TAC,TAT	Y869Y	NP_001245282.1
NM_001258354.1	3005	Silent Mutation	TAC,TAT	Y859Y	NP_001245283.1
NM_004247.3	3005	Silent Mutation	TAC,TAT	Y869Y	NP_004238.3

Gene

HIGD1B

Gene Name

HIG1 hypoxia inducible domain family member 1B

There are no transcripts associated with this gene.

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