Product Details

SNP ID

rs201798874

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:69023184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATTCAATTTTCACAAGTTAACTG[A/C]GACTTTGTCTTAAAAGTTCATCTAT

Phenotype

MIM: 614789 MIM: 601126

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

There are no transcripts associated with this gene.

Gene

TMF1

Gene Name

TATA element modulatory factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007114.2	3522	Missense Mutation	CGC,CTC	R1092L	NP_009045.2
XM_011534056.2	3522	Missense Mutation	CGC,CTC	R1095L	XP_011532358.1

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