Product Details

SNP ID
rs201884248
Assay Type
Functionally Tested
NCBI dbSNP Submissions
5
Location
Chr.1:207113053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCCCCCAAAAACTCCATCTGGG[A/G]CTCTTCATAGAAAAAGGAAAATGGC
Phenotype
MIM: 120830
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
C4BPA PubMed Links

Gene Details

Gene
C4BPA
Gene Name
complement component 4 binding protein alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000715.3 354 Missense Mutation ACT,GCT T10A NP_000706.1
XM_005273251.1 354 Missense Mutation ACT,GCT T10A XP_005273308.1
XM_005273252.4 354 Missense Mutation ACT,GCT T10A XP_005273309.1

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