Product Details

SNP ID

rs140481649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:68977627 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGACTCAGCATATTTATAGCTC[A/C]TCATGTTTCTTCTTAAATGGCCACT

Phenotype

MIM: 614789

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EOGT PubMed Links

Gene Details

Gene

EOGT

Gene Name

EGF domain specific O-linked N-acetylglucosamine transferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278689.1	2126	Missense Mutation	GAG,GAT	E525D	NP_001265618.1
NM_173654.2	2126	Missense Mutation	GAG,GAT	E441D	NP_775925.1
XM_005264743.2	2126	Missense Mutation	GAG,GAT	E525D	XP_005264800.1
XM_011533599.1	2126	Missense Mutation	GAG,GAT	E543D	XP_011531901.1
XM_011533600.1	2126	Missense Mutation	GAG,GAT	E543D	XP_011531902.1
XM_011533602.1	2126	Missense Mutation	GAG,GAT	E543D	XP_011531904.1
XM_011533603.1	2126	Missense Mutation	GAG,GAT	E542D	XP_011531905.1
XM_017006204.1	2126	Missense Mutation	GAG,GAT	E542D	XP_016861693.1
XM_017006205.1	2126	Missense Mutation	GAG,GAT	E525D	XP_016861694.1
XM_017006206.1	2126	Missense Mutation	GAG,GAT	E525D	XP_016861695.1
XM_017006207.1	2126	Intron			XP_016861696.1
XM_017006208.1	2126	Intron			XP_016861697.1
XM_017006209.1	2126	Missense Mutation	GAG,GAT	E250D	XP_016861698.1

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