Product Details

SNP ID
rs76023797
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:49702981 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGATGATGGAGCAGGTCAGGGGAC[A/C]AAAATACACAACCGTCATAAAGATG
Phenotype
MIM: 610790
Polymorphism
A/C, Transversion 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_001278784.1 796 Missense Mutation GGT,TGT G198C NP_001265713.1
NM_005827.2 796 Missense Mutation GGT,TGT G302C NP_005818.2
XM_005256929.3 796 Missense Mutation GGT,TGT G198C XP_005256986.1
XM_006721632.3 796 Missense Mutation GGT,TGT G336C XP_006721695.1
XM_011524179.2 796 Missense Mutation GGT,TGT G259C XP_011522481.1
XM_011524180.2 796 Missense Mutation GGT,TGT G198C XP_011522482.1

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