Product Details

SNP ID

rs2246945

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:138124634 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCAGGGCCTTGGTTGCCCCAAATG[G/T]CTGAATTATAGTGTTCAACAAAGTT

Phenotype

MIM: 616709

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

A4GNT PubMed Links

Gene Details

Gene

A4GNT

Gene Name

alpha-1,4-N-acetylglucosaminyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016161.2	855	Missense Mutation	GAC,GCC	D218A	NP_057245.1
XM_017006543.1	855	Missense Mutation	GAC,GCC	D218A	XP_016862032.1
XM_017006544.1	855	Missense Mutation	GAC,GCC	D218A	XP_016862033.1

Gene

DZIP1L

Gene Name

DAZ interacting zinc finger protein 1 like

There are no transcripts associated with this gene.

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