Product Details

SNP ID
rs139906053
Assay Type
Functionally Tested
NCBI dbSNP Submissions
6
Location
Chr.1:196958000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCAGTTGAGTACCAGTGCCAGAA[C/T]TTGTATCAACTTGAGGGTAACAATC
Phenotype
MIM: 600889
Polymorphism
C/T, 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_001312672.1 472 Silent Mutation AAC,AAT N56N NP_001299601.1
NM_005666.3 472 Silent Mutation AAC,AAT N180N NP_005657.1
XM_005245113.3 472 Silent Mutation AAC,AAT N115N XP_005245170.1
XM_011509458.2 472 Silent Mutation AAC,AAT N176N XP_011507760.1
XM_011509459.2 472 Silent Mutation AAC,AAT N160N XP_011507761.1
XM_011509460.2 472 Silent Mutation AAC,AAT N111N XP_011507762.1
XM_017001109.1 472 Silent Mutation AAC,AAT N121N XP_016856598.1

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