Product Details

SNP ID

rs11549810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20729147 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGAAACTCATTTGCCAAGTTCCGG[G/T]TGTGTCTTGGAACAAACGTGCACAT

Phenotype

MIM: 607587

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EEF1AKMT1 PubMed Links

Gene Details

Gene

EEF1AKMT1

Gene Name

eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318939.1	699	Missense Mutation			NP_001305868.1
NM_174928.2	699	Missense Mutation			NP_777588.1
XM_017020432.1	699	Missense Mutation			XP_016875921.1

Gene

IL17D

Gene Name

interleukin 17D

There are no transcripts associated with this gene.

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