Product Details

SNP ID

rs190796582

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:1232416 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCCAGGGCGATGTCGGGCCGCAG[C/T]CCGCCTCCCCCCGCGCCCGCGCGCG

Phenotype

MIM: 615291 MIM: 614282

Polymorphism

C/T, Transition 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	168	Silent Mutation	AGC,AGT	S46S	NP_542172.2

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	168	Intron			NP_057260.2
NM_016547.2	168	Intron			NP_057631.1
XM_011541556.1	168	Intron			XP_011539858.1

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