Product Details

SNP ID
rs199669660
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78423965 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCACTTCGCTGCCTTCTCTTTGG[C/T]CTTCAAGTTAAAGGTCCAGACATAG
Phenotype
MIM: 610063 MIM: 614942
Polymorphism
C/T, Transition 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 5915 Missense Mutation ACC,GCC T4444A NP_775899.3
XM_011525416.2 5915 Missense Mutation ACC,GCC T4448A XP_011523718.1
XM_017025261.1 5915 Missense Mutation ACC,GCC T2226A 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 5915 Intron NP_077733.3
XM_011525487.2 5915 Intron XP_011523789.1
XM_011525488.2 5915 Intron XP_011523790.1
XM_011525489.2 5915 UTR 3 XP_011523791.1
XM_017025357.1 5915 UTR 3 XP_016880846.1
XM_017025358.1 5915 UTR 3 XP_016880847.1
XM_017025359.1 5915 UTR 3 XP_016880848.1
XM_017025360.1 5915 UTR 3 XP_016880849.1
XM_017025361.1 5915 UTR 3 XP_016880850.1
XM_017025362.1 5915 UTR 3 XP_016880851.1
XM_017025363.1 5915 Intron XP_016880852.1
XM_017025364.1 5915 UTR 3 XP_016880853.1
XM_017025365.1 5915 Intron XP_016880854.1
XM_017025366.1 5915 Intron XP_016880855.1

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