Product Details

SNP ID

rs116074680

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:207104270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCAACCACATGGCTGAAATTC[A/T]GGGACTCTTTGGTGGAGCAATTACC

Phenotype

MIM: 120830 MIM: 120831

Polymorphism

A/T, 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	39	UTR 5			NP_000706.1
XM_005273251.1	39	Intron			XP_005273308.1
XM_005273252.4	39	UTR 5			XP_005273309.1

Gene

C4BPB

Gene Name

complement component 4 binding protein beta

There are no transcripts associated with this gene.

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