Product Details

SNP ID
rs138275047
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73485959 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAAGGTTGATGCTCAAAGAAGAC[A/T]CTGTTTCTTCTATAACAAGAAATCT
Phenotype
MIM: 104145
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
AFM PubMed Links

Gene Details

Gene
AFM
Gene Name
afamin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001133.2 404 Missense Mutation CAC,CTC H123L NP_001124.1
XM_017007842.1 404 Missense Mutation CAC,CTC H123L XP_016863331.1
XM_017007843.1 404 Missense Mutation CAC,CTC H123L XP_016863332.1
XM_017007844.1 404 Missense Mutation CAC,CTC H123L XP_016863333.1

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