Product Details

SNP ID
rs112517544
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:98619497 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCAAAGTGTTCTGAATGGGACA[C/G]TTCAGTTTTTCCATTCCATAAATGA
Phenotype
MIM: 604623
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MGAT4A PubMed Links

Gene Details

Gene
MGAT4A
Gene Name
mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160154.1 3320 UTR 3 NP_001153626.1
NM_012214.2 3320 UTR 3 NP_036346.1
Gene
UNC50
Gene Name
unc-50 inner nuclear membrane RNA binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005263913.4 3320 Intron XP_005263970.1
XM_006712403.3 3320 Intron XP_006712466.1
XM_006712404.2 3320 Intron XP_006712467.1

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