Product Details

SNP ID

rs148244740

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:47501668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGTACCTTTAGTTCCCAGCACAC[A/G]GTGGCTCTGCAGTAGTGAATGAAGT

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	605	Silent Mutation	ACC,ACT	T169T	NP_001026873.2
XM_005265241.3	605	Silent Mutation	ACC,ACT	T120T	XP_005265298.1
XM_011533851.2	605	Silent Mutation	ACC,ACT	T169T	XP_011532153.1
XM_011533852.2	605	Silent Mutation	ACC,ACT	T166T	XP_011532154.1
XM_011533853.2	605	Silent Mutation	ACC,ACT	T152T	XP_011532155.1
XM_011533854.2	605	Silent Mutation	ACC,ACT	T120T	XP_011532156.1
XM_011533856.2	605	Silent Mutation	ACC,ACT	T120T	XP_011532158.1
XM_011533857.2	605	Silent Mutation	ACC,ACT	T120T	XP_011532159.1
XM_017006669.1	605	Silent Mutation	ACC,ACT	T169T	XP_016862158.1
XM_017006670.1	605	Silent Mutation	ACC,ACT	T96T	XP_016862159.1

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