Product Details

SNP ID
hCV27863827
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.1:173903899 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAATAAGAACATTTTACTTAACA[A/C]AAGGGTTGGCTACTCTGCCCATGAA
Phenotype
MIM: 107300
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SERPINC1 PubMed Links

Gene Details

Gene
SERPINC1
Gene Name
serpin family C member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000488.3 1504 Missense Mutation TGT,TTT C462F NP_000479.1

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