Product Details

SNP ID
rs2079772
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:111362718 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCTGAGCCACTGGCCACGCAGG[G/T]CCCGGATCTCCTGGCCATAGCACTC
Phenotype
MIM: 614239
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FAM109A PubMed Links

Gene Details

Gene
FAM109A
Gene Name
family with sequence similarity 109 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177996.1 1101 Missense Mutation GAC,GCC D250A NP_001171467.1
NM_001177997.1 1101 Missense Mutation GAC,GCC D237A NP_001171468.1
NM_144671.4 1101 Missense Mutation GAC,GCC D237A NP_653272.2
XM_006719257.3 1101 Missense Mutation GAC,GCC D237A XP_006719320.1
XM_011537976.2 1101 Missense Mutation GAC,GCC D237A XP_011536278.1
XM_017018883.1 1101 Missense Mutation GAC,GCC D237A XP_016874372.1

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