Product Details

SNP ID
rs138888523
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:36133244 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTATTTTCTTCTCTAAAGAAAAGG[A/G]TTGTTGTTACCAACTTGAATGGTCA
Phenotype
MIM: 616054 MIM: 608731
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ELP2 PubMed Links

Gene Details

Gene
ELP2
Gene Name
elongator acetyltransferase complex subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242875.2 205 Missense Mutation ATT,GTT I49V NP_001229804.1
NM_001242876.2 205 Missense Mutation ATT,GTT I49V NP_001229805.1
NM_001242877.2 205 Missense Mutation ATT,GTT I49V NP_001229806.1
NM_001242878.2 205 Missense Mutation ATT,GTT I49V NP_001229807.1
NM_001242879.2 205 Missense Mutation ATT,GTT I49V NP_001229808.1
NM_001324465.1 205 Missense Mutation ATT,GTT I49V NP_001311394.1
NM_001324466.1 205 Missense Mutation ATT,GTT I49V NP_001311395.1
NM_001324467.1 205 Missense Mutation ATT,GTT I49V NP_001311396.1
NM_001324468.1 205 Intron NP_001311397.1
NM_018255.3 205 Missense Mutation ATT,GTT I49V NP_060725.1
Gene
SLC39A6
Gene Name
solute carrier family 39 member 6
There are no transcripts associated with this gene.

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