Product Details

SNP ID
rs148819200
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:186717623 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAATCACAGTCCGAGGAAATTGA[C/G]TGCAATGACAAGGATTTATTTAAAG
Phenotype
MIM: 612358
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KNG1 PubMed Links

Gene Details

Gene
KNG1
Gene Name
kininogen 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000893.3 315 Missense Mutation GAC,GAG D27E NP_000884.1
NM_001102416.2 315 Missense Mutation GAC,GAG D27E NP_001095886.1
NM_001166451.1 315 Missense Mutation GAC,GAG D27E NP_001159923.1

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