Product Details

SNP ID

rs142287900

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:138124521 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGATGGGGTAAAATCTTTGGGGGT[A/G]TAAGAAGGATATGTTCAGACACCTG

Phenotype

MIM: 616709

Polymorphism

A/G, Transition 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	968	Missense Mutation	CAC,TAC	H256Y	NP_057245.1
XM_017006543.1	968	Missense Mutation	CAC,TAC	H256Y	XP_016862032.1
XM_017006544.1	968	Missense Mutation	CAC,TAC	H256Y	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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