Product Details

SNP ID

rs202137559

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:98808057 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACTGCACCGCCGCCTGCCCGAGC[C/G]CTGGAACCCGCTGTGAGTGCACAGC

Phenotype

MIM: 610290

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

GALNT12 PubMed Links

Additional Information

For this assay, SNP(s) [rs1137654] 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

GALNT12

Gene Name

polypeptide N-acetylgalactosaminyltransferase 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024642.4	38	Missense Mutation	CCC,CGC	P120R	NP_078918.3
XM_006717287.1	38	UTR 5			XP_006717350.1
XM_011519018.2	38	Intron			XP_011517320.1
XM_011519020.1	38	UTR 5			XP_011517322.1
XM_017015133.1	38	Intron			XP_016870622.1

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