Product Details

SNP ID
rs199715618
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:30636939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCCGCCGCCACCACCCACTTCA[G/T]TTGGCCGCCATGGGTCCGCTCTGCC
Phenotype
MIM: 613441
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SLC35E4 PubMed Links

Gene Details

Gene
SLC35E4
Gene Name
solute carrier family 35 member E4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001479.3 2217 Missense Mutation CAG,CAT Q163H NP_001001479.1
NM_001318370.1 2217 Missense Mutation CAG,CAT Q163H NP_001305299.1
NM_001318371.1 2217 Missense Mutation CAG,CAT Q163H NP_001305300.1
XM_017028794.1 2217 Missense Mutation CAG,CAT Q163H XP_016884283.1
XM_017028795.1 2217 Missense Mutation CAG,CAT Q163H XP_016884284.1
Gene
TCN2
Gene Name
transcobalamin 2
There are no transcripts associated with this gene.

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