Product Details

SNP ID
rs141962576
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:56931833 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCTTCCGATAGGAGACCTCACAG[C/G]CTAGGCCTTGGGATCCAACAGGACA
Phenotype
MIM: 120960
Polymorphism
C/G, Transversion 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 1790 Missense Mutation GCC,GGC A533G NP_000057.2
NM_001278543.1 1790 Missense Mutation GCC,GGC A481G NP_001265472.1
NM_001278544.1 1790 Missense Mutation GCC,GGC A471G NP_001265473.1
XM_017002235.1 1790 Missense Mutation GCC,GGC A533G XP_016857724.1

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