Product Details

SNP ID
rs138792300
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:196902462 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGAAATTCAACATGGAGGTCTA[C/T]ATTATAAGAGTTTGCGTAGACTATA
Phenotype
MIM: 605337
Polymorphism
C/T, Transition 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_001201550.2 203 Missense Mutation CAT,TAT H35Y NP_001188479.1
NM_001201551.1 203 Missense Mutation CAT,TAT H34Y NP_001188480.1
NM_006684.4 203 Missense Mutation CAT,TAT H35Y NP_006675.2
XM_006711129.3 203 Intron XP_006711192.1
XM_017000110.1 203 Intron XP_016855599.1
XM_017000111.1 203 Missense Mutation CAT,TAT H35Y XP_016855600.1
XM_017000112.1 203 Intron XP_016855601.1
XM_017000113.1 203 Missense Mutation CAT,TAT H35Y XP_016855602.1
XM_017000114.1 203 Intron XP_016855603.1

View Full Product Details