Product Details

SNP ID
rs7039793
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:121075488 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGTTGTCACGGTATCGGACGGAG[C/T]ACAGTGCGTGGAGAAAGATGACAGG
Phenotype
MIM: 120900 MIM: 605496
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C5 PubMed Links

Gene Details

Gene
C5
Gene Name
complement component 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317163.1 Intron NP_001304092.1
NM_001317164.1 Intron NP_001304093.1
NM_001735.2 Intron NP_001726.2
XM_011518980.2 Intron XP_011517282.1
XM_017015102.1 Intron XP_016870591.1
XM_017015103.1 Intron XP_016870592.1
XM_017015104.1 Intron XP_016870593.1
Gene
CNTRL
Gene Name
centriolin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007018.4 Intron NP_008949.4
XM_005251679.3 Intron XP_005251736.1
XM_006716940.2 Intron XP_006717003.1
XM_006716942.1 Intron XP_006717005.1
XM_006716944.3 Intron XP_006717007.1
XM_011518166.1 Intron XP_011516468.1
XM_011518167.1 Intron XP_011516469.1
XM_011518168.1 Intron XP_011516470.1
XM_011518169.2 Intron XP_011516471.1
XM_011518170.1 Intron XP_011516472.1
XM_011518172.2 Intron XP_011516474.1
XM_011518173.1 Intron XP_011516475.1
XM_017014223.1 Intron XP_016869712.1
XM_017014224.1 Intron XP_016869713.1
XM_017014225.1 Intron XP_016869714.1
XM_017014226.1 Intron XP_016869715.1
XM_017014227.1 Intron XP_016869716.1
XM_017014228.1 Intron XP_016869717.1
XM_017014229.1 Intron XP_016869718.1
XM_017014230.1 Intron XP_016869719.1

View Full Product Details