Product Details

SNP ID

rs115005664

Assay Type

Functionally tested

NCBI dbSNP Submissions

21

Location

Chr.1:1243468 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACGTGCAGACTGGCAGAGAACT[A/G]GAAGATGCCGGACACGGGGGCCGTG

Phenotype

MIM: 615291 MIM: 616593

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

B3GALT6 PubMed Links

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	746	Nonsense Mutation	CAG,TAG	Q206*	NP_001014980.1
XM_011541435.2	746	Nonsense Mutation	CAG,TAG	Q206*	XP_011539737.1
XM_011541436.2	746	Nonsense Mutation	CAG,TAG	Q206*	XP_011539738.1
XM_011541437.1	746	Nonsense Mutation	CAG,TAG	Q134*	XP_011539739.1

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