Product Details

SNP ID
rs200117165
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:67149303 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGAGTCCCATTGGAAGGGGCCTG[A/C]AGCGACAGGCTGTGGATGCGCACAG
Phenotype
MIM: 603500
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
B3GNT9 PubMed Links

Gene Details

Gene
B3GNT9
Gene Name
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033309.2 1504 Missense Mutation GCA,TCA A395S NP_171608.2
Gene
C16orf70
Gene Name
chromosome 16 open reading frame 70
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320540.1 1504 Intron NP_001307469.1
NM_001320541.1 1504 Intron NP_001307470.1
NM_001320542.1 1504 Intron NP_001307471.1
NM_001320543.1 1504 Intron NP_001307472.1
NM_025187.4 1504 Intron NP_079463.2
XM_006721284.3 1504 Intron XP_006721347.1
XM_011523350.2 1504 Intron XP_011521652.1
XM_017023729.1 1504 Intron XP_016879218.1
XM_017023730.1 1504 Intron XP_016879219.1
XM_017023731.1 1504 Intron XP_016879220.1
Gene
TRADD
Gene Name
TNFRSF1A associated via death domain
There are no transcripts associated with this gene.

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