Product Details

SNP ID
rs199547603
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:196902480 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTCTATATTATAAGAGTTTGCGT[A/T]GACTATACTTTCCAGCAGCTGCAGG
Phenotype
MIM: 605337
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CFHR4 PubMed Links

Gene Details

Gene
CFHR4
Gene Name
complement factor H related 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201550.2 221 Nonsense Mutation AGA,TGA R41* NP_001188479.1
NM_001201551.1 221 Nonsense Mutation AGA,TGA R40* NP_001188480.1
NM_006684.4 221 Nonsense Mutation AGA,TGA R41* NP_006675.2
XM_006711129.3 221 Intron XP_006711192.1
XM_017000110.1 221 Intron XP_016855599.1
XM_017000111.1 221 Nonsense Mutation AGA,TGA R41* XP_016855600.1
XM_017000112.1 221 Intron XP_016855601.1
XM_017000113.1 221 Nonsense Mutation AGA,TGA R41* XP_016855602.1
XM_017000114.1 221 Intron XP_016855603.1

View Full Product Details