Product Details

SNP ID

rs35948132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20732001 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAATGGATTATTGTAATCATAGAA[A/G]ATAAACTCCTCTCCATACATGGCAA

Phenotype

MIM: 607587

Polymorphism

A/G, Transition 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	469	Silent Mutation	ATC,ATT	I116I	NP_001305868.1
NM_174928.2	469	Silent Mutation	ATC,ATT	I116I	NP_777588.1
XM_017020432.1	469	Silent Mutation	ATC,ATT	I116I	XP_016875921.1

Gene

IL17D

Gene Name

interleukin 17D

There are no transcripts associated with this gene.

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