Product Details

SNP ID

rs201607486

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:36129940 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCTGACCAGTTGGCGACATGGTG[A/G]CACCCGTGCTGGAGACTTCTCACGT

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	67	Missense Mutation	ACA,GCA	T3A	NP_001229804.1
NM_001242876.2	67	Missense Mutation	ACA,GCA	T3A	NP_001229805.1
NM_001242877.2	67	Missense Mutation	ACA,GCA	T3A	NP_001229806.1
NM_001242878.2	67	Missense Mutation	ACA,GCA	T3A	NP_001229807.1
NM_001242879.2	67	Missense Mutation	ACA,GCA	T3A	NP_001229808.1
NM_001324465.1	67	Missense Mutation	ACA,GCA	T3A	NP_001311394.1
NM_001324466.1	67	Missense Mutation	ACA,GCA	T3A	NP_001311395.1
NM_001324467.1	67	Missense Mutation	ACA,GCA	T3A	NP_001311396.1
NM_001324468.1	67	UTR 5			NP_001311397.1
NM_018255.3	67	Missense Mutation	ACA,GCA	T3A	NP_060725.1

Gene

SLC39A6

Gene Name

solute carrier family 39 member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099406.1	67	Intron			NP_001092876.1
NM_012319.3	67	Intron			NP_036451.3
XM_011525900.1	67	Intron			XP_011524202.1
XM_011525901.1	67	Intron			XP_011524203.1

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