Product Details

SNP ID

rs143634326

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:157258618 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCATTCATAGCAGCAAAAGGAA[C/T]TCAGGTAGTCAAAATATCAGTACAC

Phenotype

MIM: 615129

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GALNT5 PubMed Links

Additional Information

For this assay, SNP(s) [rs61748237] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1071	Missense Mutation	ACT,ATT	T179I	XP_016858726.1
XM_017003238.1	1071	Missense Mutation	ACT,ATT	T179I	XP_016858727.1

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