Product Details

SNP ID
rs146074624
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:47498416 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCGCATCTCCACTGTCGTGCACA[A/G]GGACCACCATGTTTCCCTGCATCAG
Phenotype
MIM: 615020
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ELP6 PubMed Links

Gene Details

Gene
ELP6
Gene Name
elongator acetyltransferase complex subunit 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031703.2 932 Missense Mutation CCT,CTT P181L NP_001026873.2
XM_005265241.3 932 Missense Mutation CCT,CTT P132L XP_005265298.1
XM_011533851.2 932 Intron XP_011532153.1
XM_011533852.2 932 Intron XP_011532154.1
XM_011533853.2 932 Intron XP_011532155.1
XM_011533854.2 932 Intron XP_011532156.1
XM_011533856.2 932 Intron XP_011532158.1
XM_011533857.2 932 Intron XP_011532159.1
XM_017006669.1 932 Missense Mutation CCT,CTT P189L XP_016862158.1
XM_017006670.1 932 Missense Mutation CCT,CTT P108L XP_016862159.1

View Full Product Details