Product Details

SNP ID
rs144385507
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:49703235 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAAGAGCAGGATGTTATAGATGA[C/T]GGCAGGGTACCTTTCAGCAAAGCTC
Phenotype
MIM: 610790
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM117A PubMed Links

Gene Details

Gene
FAM117A
Gene Name
family with sequence similarity 117 member A
There are no transcripts associated with this gene.

Gene
SLC35B1
Gene Name
solute carrier family 35 member B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278784.1 718 Missense Mutation ATC,GTC I172V NP_001265713.1
NM_005827.2 718 Missense Mutation ATC,GTC I276V NP_005818.2
XM_005256929.3 718 Missense Mutation ATC,GTC I172V XP_005256986.1
XM_006721632.3 718 Missense Mutation ATC,GTC I310V XP_006721695.1
XM_011524179.2 718 Missense Mutation ATC,GTC I233V XP_011522481.1
XM_011524180.2 718 Missense Mutation ATC,GTC I172V XP_011522482.1

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