Product Details

SNP ID

rs145266871

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:11271156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCCCGGTGGGTCAGGACGCGAG[C/G]CTCCTCAGGACGTTGGTGATGCTCC

Phenotype

MIM: 615136

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

GALNT18 PubMed Links

Additional Information

For this assay, SNP(s) [rs10831567] 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

GALNT18

Gene Name

polypeptide N-acetylgalactosaminyltransferase 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198516.2	2078	Missense Mutation	AGC,AGG	S604R	NP_940918.2
XM_006718224.2	2078	Missense Mutation	AGC,AGG	S542R	XP_006718287.1
XM_006718225.2	2078	Intron			XP_006718288.1
XM_011520068.2	2078	Missense Mutation	AGC,AGG	S427R	XP_011518370.1
XM_011520069.2	2078	Intron			XP_011518371.1
XM_011520070.2	2078	Intron			XP_011518372.1
XM_011520071.2	2078	Intron			XP_011518373.1

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