Product Details

SNP ID
rs12072040
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:196957027 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCAGTTGACCTCTGTTTATCTA[A/G]AAGTGTGGAGGGTGGTCATTGGCTT
Phenotype
MIM: 600889
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CFHR2 PubMed Links

Gene Details

Gene
CFHR2
Gene Name
complement factor H related 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001312672.1 Intron NP_001299601.1
NM_005666.3 Intron NP_005657.1
XM_005245113.3 Intron XP_005245170.1
XM_011509458.2 Intron XP_011507760.1
XM_011509459.2 Intron XP_011507761.1
XM_011509460.2 Intron XP_011507762.1
XM_017001109.1 Intron XP_016856598.1

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