Product Details

SNP ID
rs143231506
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:57599960 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGCAAGACAGAGGCGAAGGGAAG[G/T]TCGCAACAACAGTTATCTCCAAGAT
Phenotype
MIM: 606860
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SERPING1 PubMed Links

Gene Details

Gene
SERPING1
Gene Name
serpin family G member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000062.2 172 Missense Mutation GTC,TTC V45F NP_000053.2
NM_001032295.1 172 Missense Mutation GTC,TTC V45F NP_001027466.1

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