Product Details

SNP ID

rs2180950

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:31519220 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCAAATACATTCCTTTTAAATTGT[A/G]AATATATTTAGAGCATGTCCAGACT

Phenotype

MIM: 606985 MIM: 612323

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ELP4 PubMed Links

Gene Details

Gene

ELP4

Gene Name

elongator acetyltransferase complex subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288725.1		Intron			NP_001275654.1
NM_001288726.1		Intron			NP_001275655.1
NM_019040.4		Intron			NP_061913.3

Gene

IMMP1L

Gene Name

inner mitochondrial membrane peptidase subunit 1

There are no transcripts associated with this gene.

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