Product Details

SNP ID
rs201800989
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:56929434 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGTCAAGTGTTTCTGAAGCAGG[A/G]CCTGAACAGGGGCTACCCCCATTTT
Phenotype
MIM: 120960
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C8B PubMed Links

Gene Details

Gene
C8B
Gene Name
complement component 8, beta polypeptide
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000066.3 1938 Silent Mutation GGC,GGT G582G NP_000057.2
NM_001278543.1 1938 Silent Mutation GGC,GGT G530G NP_001265472.1
NM_001278544.1 1938 Silent Mutation GGC,GGT G520G NP_001265473.1
XM_017002235.1 1938 Silent Mutation GGC,GGT G582G XP_016857724.1

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