Product Details

SNP ID

rs74511182

Assay Type

Functionally Tested

NCBI dbSNP Submissions

8

Location

Chr.1:1242864 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGCAGCAGCCCCTGCACCTGTA[C/G]CGTGAAGACCCTGCTGTTGCTCTCC

Phenotype

MIM: 615291 MIM: 616593

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

B3GALT6 PubMed Links

Additional Information

For this assay, SNP(s) [rs11260566] 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

B3GALT6

Gene Name

beta-1,3-galactosyltransferase 6

There are no transcripts associated with this gene.

Gene

FAM132A

Gene Name

family with sequence similarity 132 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014980.2	907	Missense Mutation	CTA,GTA	L261V	NP_001014980.1
XM_011541435.2	907	Silent Mutation	CGC,CGG	R265R	XP_011539737.1
XM_011541436.2	907	Silent Mutation	CGC,CGG	R259R	XP_011539738.1
XM_011541437.1	907	Silent Mutation	CGC,CGG	R193R	XP_011539739.1

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