Product Details

SNP ID

rs201671590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33279850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCGTGGGTCCAGACAAATAAGCT[A/C]TGCAGGTACCTGGGGGTGTCACAGA

Phenotype

MIM: 603095 MIM: 605660 MIM: 180473 MIM: 603443 MIM: 611440

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

B3GALT4 PubMed Links

Gene Details

Gene

B3GALT4

Gene Name

beta-1,3-galactosyltransferase 4

There are no transcripts associated with this gene.

Gene

MIR6873

Gene Name

microRNA 6873

There are no transcripts associated with this gene.

Gene

PFDN6

Gene Name

prefoldin subunit 6

There are no transcripts associated with this gene.

Gene

RPS18

Gene Name

ribosomal protein S18

There are no transcripts associated with this gene.

Gene

VPS52

Gene Name

VPS52, GARP complex subunit

There are no transcripts associated with this gene.

Gene

WDR46

Gene Name

WD repeat domain 46

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164267.1	1605	Nonsense Mutation	GAG,TAG	E458*	NP_001157739.1
NM_005452.5	1605	Nonsense Mutation	GAG,TAG	E512*	NP_005443.3
XM_017011484.1	1605	Nonsense Mutation	GAG,TAG	E512*	XP_016866973.1
XM_017011485.1	1605	Nonsense Mutation	GAG,TAG	E190*	XP_016866974.1
XM_017011486.1	1605	Nonsense Mutation	GAG,TAG	E168*	XP_016866975.1
XM_017011487.1	1605	Nonsense Mutation	GAG,TAG	E168*	XP_016866976.1

View Full Product Details