Product Details

SNP ID

rs2700500

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:104064696 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTTGGAGGGGGAAATGAGGGCATC[G/T]CGGATGAGCTGCACGTCTACAACAC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316967.1	239	Intron			NP_001303896.1
NM_031302.4	239	Intron			NP_112592.1
XM_011538793.2	239	Intron			XP_011537095.1
XM_017019999.1	239	Intron			XP_016875488.1

Gene

HCFC2

Gene Name

host cell factor C2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013320.2	239	Missense Mutation	GCG,TCG	A46S	NP_037452.1
XM_017019241.1	239	Missense Mutation	GCG,TCG	A46S	XP_016874730.1
XM_017019242.1	239	Missense Mutation	GCG,TCG	A46S	XP_016874731.1

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