Product Details

SNP ID

rs148322179

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:1242871 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCCCCTGCACCTGTAGCGTGAA[A/G]ACCCTGCTGTTGCTCTCCAGGCCTG

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	900	Silent Mutation	GTC,GTT	V258V	NP_001014980.1
XM_011541435.2	900	Missense Mutation	TCT,TTT	S263F	XP_011539737.1
XM_011541436.2	900	Missense Mutation	TCT,TTT	S257F	XP_011539738.1
XM_011541437.1	900	Missense Mutation	TCT,TTT	S191F	XP_011539739.1

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