Product Details

SNP ID

rs202082636

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:1243079 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACTCACGTGTGGCGCTGGCACAG[G/T]GACTCAATACAGATGAGAACACACA

Phenotype

MIM: 615291 MIM: 616593

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

B3GALT6 PubMed Links

Additional Information

For this assay, SNP(s) [rs78555129] are located under a primer 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	840	Silent Mutation	TCA,TCC	S238S	NP_001014980.1
XM_011541435.2	840	Missense Mutation	CAC,CCC	H243P	XP_011539737.1
XM_011541436.2	840	Missense Mutation	CAC,CCC	H237P	XP_011539738.1
XM_011541437.1	840	Missense Mutation	CAC,CCC	H171P	XP_011539739.1

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