Product Details

SNP ID

rs144546271

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:157258456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCTGGGAAGGGGCAAGGTTGTGC[C/T]GTTGTGGCATCCTGCACATCTGCAG

Phenotype

MIM: 615129

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GALNT5 PubMed Links

Gene Details

Gene

GALNT5

Gene Name

polypeptide N-acetylgalactosaminyltransferase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_017003237.1	909	Missense Mutation	CCG,CTG	P125L	XP_016858726.1
XM_017003238.1	909	Missense Mutation	CCG,CTG	P125L	XP_016858727.1

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