Product Details

SNP ID
rs145062577
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:207113113 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCTCCAGGCTGTGGAAAGTCTCT[C/G]ATCCAATTCTCTTCCAAATGACCTT
Phenotype
MIM: 120830
Polymorphism
C/G, Transversion 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_000715.3 414 Missense Mutation CAT,GAT H30D NP_000706.1
XM_005273251.1 414 Missense Mutation CAT,GAT H30D XP_005273308.1
XM_005273252.4 414 Missense Mutation CAT,GAT H30D XP_005273309.1

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