Product Details

SNP ID
rs143246806
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78423949 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCACGGCTGCCAGGATCCACTTC[G/T]CTGCCTTCTCTTTGGTCTTCAAGTT
Phenotype
MIM: 610063 MIM: 614942
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DNAH17 PubMed Links

Gene Details

Gene
DNAH17
Gene Name
dynein axonemal heavy chain 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173628.3 5899 Missense Mutation GGG,GTG G4449V NP_775899.3
XM_011525416.2 5899 Missense Mutation GGG,GTG G4453V XP_011523718.1
XM_017025261.1 5899 Missense Mutation GGG,GTG G2231V XP_016880750.1
Gene
PGS1
Gene Name
phosphatidylglycerophosphate synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024419.4 5899 Intron NP_077733.3
XM_011525487.2 5899 Intron XP_011523789.1
XM_011525488.2 5899 Intron XP_011523790.1
XM_011525489.2 5899 UTR 3 XP_011523791.1
XM_017025357.1 5899 UTR 3 XP_016880846.1
XM_017025358.1 5899 UTR 3 XP_016880847.1
XM_017025359.1 5899 UTR 3 XP_016880848.1
XM_017025360.1 5899 UTR 3 XP_016880849.1
XM_017025361.1 5899 UTR 3 XP_016880850.1
XM_017025362.1 5899 UTR 3 XP_016880851.1
XM_017025363.1 5899 Intron XP_016880852.1
XM_017025364.1 5899 UTR 3 XP_016880853.1
XM_017025365.1 5899 Intron XP_016880854.1
XM_017025366.1 5899 Intron XP_016880855.1

View Full Product Details