Product Details

SNP ID

rs200956214

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:36129945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCAGTTGGCGACATGGTGGCACC[C/G]GTGCTGGAGACTTCTCACGTGTTTT

Phenotype

MIM: 616054 MIM: 608731

Polymorphism

C/G, Transversion 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	72	Silent Mutation	CCC,CCG	P4P	NP_001229804.1
NM_001242876.2	72	Silent Mutation	CCC,CCG	P4P	NP_001229805.1
NM_001242877.2	72	Silent Mutation	CCC,CCG	P4P	NP_001229806.1
NM_001242878.2	72	Silent Mutation	CCC,CCG	P4P	NP_001229807.1
NM_001242879.2	72	Silent Mutation	CCC,CCG	P4P	NP_001229808.1
NM_001324465.1	72	Silent Mutation	CCC,CCG	P4P	NP_001311394.1
NM_001324466.1	72	Silent Mutation	CCC,CCG	P4P	NP_001311395.1
NM_001324467.1	72	Silent Mutation	CCC,CCG	P4P	NP_001311396.1
NM_001324468.1	72	UTR 5			NP_001311397.1
NM_018255.3	72	Silent Mutation	CCC,CCG	P4P	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	72	Intron			NP_001092876.1
NM_012319.3	72	Intron			NP_036451.3
XM_011525900.1	72	Intron			XP_011524202.1
XM_011525901.1	72	Intron			XP_011524203.1

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