Product Details

SNP ID
rs142983650
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78424052 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATAGATGTTCTTGGTCTCCATGC[A/G]GTCCACAGGAATGGCCTTGATGAAG
Phenotype
MIM: 610063 MIM: 614942
Polymorphism
A/G, 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 6002 Missense Mutation CGC,TGC R4415C NP_775899.3
XM_011525416.2 6002 Missense Mutation CGC,TGC R4419C XP_011523718.1
XM_017025261.1 6002 Missense Mutation CGC,TGC R2197C 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 6002 Intron NP_077733.3
XM_011525487.2 6002 Intron XP_011523789.1
XM_011525488.2 6002 Intron XP_011523790.1
XM_011525489.2 6002 UTR 3 XP_011523791.1
XM_017025357.1 6002 UTR 3 XP_016880846.1
XM_017025358.1 6002 UTR 3 XP_016880847.1
XM_017025359.1 6002 UTR 3 XP_016880848.1
XM_017025360.1 6002 UTR 3 XP_016880849.1
XM_017025361.1 6002 UTR 3 XP_016880850.1
XM_017025362.1 6002 UTR 3 XP_016880851.1
XM_017025363.1 6002 Intron XP_016880852.1
XM_017025364.1 6002 UTR 3 XP_016880853.1
XM_017025365.1 6002 Intron XP_016880854.1
XM_017025366.1 6002 Intron XP_016880855.1

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