Product Details

SNP ID
rs113538058
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78423951 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACGGCTGCCAGGATCCACTTCGC[G/T]GCCTTCTCTTTGGTCTTCAAGTTAA
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 5901 Silent Mutation GCA,GCC A4448A NP_775899.3
XM_011525416.2 5901 Silent Mutation GCA,GCC A4452A XP_011523718.1
XM_017025261.1 5901 Silent Mutation GCA,GCC A2230A 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 5901 Intron NP_077733.3
XM_011525487.2 5901 Intron XP_011523789.1
XM_011525488.2 5901 Intron XP_011523790.1
XM_011525489.2 5901 UTR 3 XP_011523791.1
XM_017025357.1 5901 UTR 3 XP_016880846.1
XM_017025358.1 5901 UTR 3 XP_016880847.1
XM_017025359.1 5901 UTR 3 XP_016880848.1
XM_017025360.1 5901 UTR 3 XP_016880849.1
XM_017025361.1 5901 UTR 3 XP_016880850.1
XM_017025362.1 5901 UTR 3 XP_016880851.1
XM_017025363.1 5901 Intron XP_016880852.1
XM_017025364.1 5901 UTR 3 XP_016880853.1
XM_017025365.1 5901 Intron XP_016880854.1
XM_017025366.1 5901 Intron XP_016880855.1

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