Product Details

SNP ID
rs142997159
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:196902603 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACAAGATGGTTGGTCACCAACG[A/G]TCCCATGCCTCAGTAAGTAAACCTC
Phenotype
MIM: 605337
Polymorphism
A/G, 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_001201550.2 344 Missense Mutation ATC,GTC I82V NP_001188479.1
NM_001201551.1 344 Missense Mutation ATC,GTC I81V NP_001188480.1
NM_006684.4 344 Missense Mutation ATC,GTC I82V NP_006675.2
XM_006711129.3 344 Intron XP_006711192.1
XM_017000110.1 344 Intron XP_016855599.1
XM_017000111.1 344 Missense Mutation ATC,GTC I82V XP_016855600.1
XM_017000112.1 344 Intron XP_016855601.1
XM_017000113.1 344 Missense Mutation ATC,GTC I82V XP_016855602.1
XM_017000114.1 344 Intron XP_016855603.1

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