Product Details

SNP ID

rs200200721

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:104068015 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTGGTTTACCTCCTTGTCCTCG[G/T]CTTGGACATAGCTTCTCTTTATATG

Phenotype

MIM: 607926

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GLT8D2 PubMed Links

Gene Details

Gene

GLT8D2

Gene Name

glycosyltransferase 8 domain containing 2

There are no transcripts associated with this gene.

Gene

HCFC2

Gene Name

host cell factor C2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013320.2	484	Silent Mutation	CGG,CGT	R127R	NP_037452.1
XM_017019241.1	484	Silent Mutation	CGG,CGT	R127R	XP_016874730.1
XM_017019242.1	484	Silent Mutation	CGG,CGT	R127R	XP_016874731.1

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