Product Details

SNP ID
rs199869045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:132197203 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCCCAAAGTTGGCATCTTTGGA[C/T]ATCTCCACCTCCAGGCAGCGGCCCG
Phenotype
MIM: 606251
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GALNT9 PubMed Links

Gene Details

Gene
GALNT9
Gene Name
polypeptide N-acetylgalactosaminyltransferase 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122636.1 896 Missense Mutation ATA,ATG I572M NP_001116108.1
NM_021808.3 896 Missense Mutation ATA,ATG I206M NP_068580.2
XM_017019371.1 896 Missense Mutation ATA,ATG I471M XP_016874860.1
XM_017019372.1 896 Missense Mutation ATA,ATG I469M XP_016874861.1
XM_017019373.1 896 Missense Mutation ATA,ATG I469M XP_016874862.1
XM_017019374.1 896 Missense Mutation ATA,ATG I429M XP_016874863.1
XM_017019375.1 896 Intron XP_016874864.1
XM_017019376.1 896 Intron XP_016874865.1

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