Product Details

SNP ID
rs12046484
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:207089101 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGCCCGTTCTCTTTCCCCAGTG[C/T]TGGCCAGAGTTACAGAAGTTGGACT
Phenotype
MIM: 120831 MIM: 171835
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C4BPB PubMed Links

Gene Details

Gene
C4BPB
Gene Name
complement component 4 binding protein beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000716.3 124 Intron NP_000707.1
NM_001017364.1 124 Intron NP_001017364.1
NM_001017365.2 124 Intron NP_001017365.1
NM_001017366.2 124 Intron NP_001017366.1
NM_001017367.1 124 Intron NP_001017367.1
XM_005273254.4 124 UTR 5 XP_005273311.1
XM_005273255.2 124 Intron XP_005273312.1
Gene
PFKFB2
Gene Name
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
There are no transcripts associated with this gene.

View Full Product Details