Product Details

SNP ID

rs150045663

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:4720814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGGTGGTCTCCACAGGGAGCTTC[C/G]TTTACATCTGAATAAACGCTACGGG

Phenotype

MIM: 606250

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GALNT8 PubMed Links

Gene Details

Gene

GALNT8

Gene Name

polypeptide N-acetylgalactosaminyltransferase 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017417.1	229	Missense Mutation	CCT,CGT	P46R	NP_059113.1

Gene

LOC101929549

Gene Name

uncharacterized LOC101929549

There are no transcripts associated with this gene.

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