Product Details

SNP ID
rs201350131
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:56929420 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCATCTGCTAGGAGCAGTCAAGT[A/G]TTTCTGAAGCAGGGCCTGAACAGGG
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 1952 Missense Mutation ACA,ATA T587I NP_000057.2
NM_001278543.1 1952 Missense Mutation ACA,ATA T535I NP_001265472.1
NM_001278544.1 1952 Missense Mutation ACA,ATA T525I NP_001265473.1
XM_017002235.1 1952 Missense Mutation ACA,ATA T587I XP_016857724.1

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