Product Details

SNP ID
rs41257904
Assay Type
Functionally tested
NCBI dbSNP Submissions
31
Location
Chr.1:196958055 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACATGTAGAAACGGACAATGGTCA[G/T]AACCACCAAAATGCTTAGGTAAGTA
Phenotype
MIM: 600889
Polymorphism
G/T, Transversion 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_001312672.1 527 Nonsense Mutation GAA,TAA E75* NP_001299601.1
NM_005666.3 527 Nonsense Mutation GAA,TAA E199* NP_005657.1
XM_005245113.3 527 Nonsense Mutation GAA,TAA E134* XP_005245170.1
XM_011509458.2 527 Nonsense Mutation GAA,TAA E195* XP_011507760.1
XM_011509459.2 527 Nonsense Mutation GAA,TAA E179* XP_011507761.1
XM_011509460.2 527 Nonsense Mutation GAA,TAA E130* XP_011507762.1
XM_017001109.1 527 Nonsense Mutation GAA,TAA E140* XP_016856598.1

View Full Product Details