Product Details

SNP ID

rs145645025

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:1243503 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACACGGGGGCCGTGAACCGACCC[A/G]AGGCCAGGCTCAGACCGGAGCCTCG

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	711	Missense Mutation	TCG,TTG	S194L	NP_001014980.1
XM_011541435.2	711	Missense Mutation	TCG,TTG	S194L	XP_011539737.1
XM_011541436.2	711	Missense Mutation	TCG,TTG	S194L	XP_011539738.1
XM_011541437.1	711	Missense Mutation	TCG,TTG	S122L	XP_011539739.1

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