Product Details

SNP ID

rs142820961

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:1232735 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGCACGTGGCCTTCGAGTTCGTG[A/C]TCAAGGCGGACGACGACTCCTTCGC

Phenotype

MIM: 615291 MIM: 616593 MIM: 614282

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

B3GALT6 PubMed Links

Gene Details

Gene

B3GALT6

Gene Name

beta-1,3-galactosyltransferase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080605.3	487	Missense Mutation	ATC,CTC	I153L	NP_542172.2

Gene

FAM132A

Gene Name

family with sequence similarity 132 member A

There are no transcripts associated with this gene.

Gene

SDF4

Gene Name

stromal cell derived factor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016176.3	487	Intron			NP_057260.2
NM_016547.2	487	Intron			NP_057631.1
XM_011541556.1	487	Intron			XP_011539858.1

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