Product Details

SNP ID

rs139147681

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82946969 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGACCTCAGGTTGTCCTCAAAGGC[A/G]CCCCCTGTGAGGTCCTGTCAGGAGC

Phenotype

MIM: 615337 MIM: 604649

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

B3GNTL1 PubMed Links

Additional Information

For this assay, SNP(s) [rs7225887] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

B3GNTL1

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009905.2	1034	Silent Mutation	GGC,GGT	G340G	NP_001009905.1
NM_001320742.1	1034	Silent Mutation	GGC,GGT	G326G	NP_001307671.1
NM_001320743.1	1034	Silent Mutation	GGC,GGT	G162G	NP_001307672.1
XM_006722272.3	1034	Silent Mutation	GGC,GGT	G340G	XP_006722335.1
XM_006722274.2	1034	Intron			XP_006722337.2
XM_011523532.2	1034	Silent Mutation	GGC,GGT	G318G	XP_011521834.1
XM_011523535.1	1034	Silent Mutation	GGC,GGT	G229G	XP_011521837.1
XM_017024205.1	1034	Silent Mutation	GGC,GGT	G308G	XP_016879694.1
XM_017024206.1	1034	Silent Mutation	GGC,GGT	G223G	XP_016879695.1
XM_017024207.1	1034	Intron			XP_016879696.1

Gene

LOC105371944

Gene Name

uncharacterized LOC105371944

There are no transcripts associated with this gene.

Gene

TBCD

Gene Name

tubulin folding cofactor D

There are no transcripts associated with this gene.

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