Product Details

SNP ID
rs150731893
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:196957929 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTGGGCCCCCTCCACCTATTGAC[A/G]ATGGAGACATTACTTCATTCCTGTT
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_001312672.1 401 Missense Mutation AAT,GAT N33D NP_001299601.1
NM_005666.3 401 Missense Mutation AAT,GAT N157D NP_005657.1
XM_005245113.3 401 Missense Mutation AAT,GAT N92D XP_005245170.1
XM_011509458.2 401 Missense Mutation AAT,GAT N153D XP_011507760.1
XM_011509459.2 401 Missense Mutation AAT,GAT N137D XP_011507761.1
XM_011509460.2 401 Missense Mutation AAT,GAT N88D XP_011507762.1
XM_017001109.1 401 Missense Mutation AAT,GAT N98D XP_016856598.1

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