Product Details

SNP ID

rs55867570

Assay Type

Functionally Tested

NCBI dbSNP Submissions

36

Location

Chr.1:207113036 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGAAGCAGCAGGCCATGCACCCCC[A/C]AAAAACTCCATCTGGGGCTCTTCAT

Phenotype

MIM: 120830

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

C4BPA PubMed Links

Additional Information

For this assay, SNP(s) [rs12072216] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	337	Missense Mutation	CAA,CCA	Q4P	NP_000706.1
XM_005273251.1	337	Missense Mutation	CAA,CCA	Q4P	XP_005273308.1
XM_005273252.4	337	Missense Mutation	CAA,CCA	Q4P	XP_005273309.1

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