Product Details

SNP ID

rs117340568

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:78423999 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAAGGTCCAGACATAGGTGGGGCC[A/G]CGGATGCGTGTTTTGTACACGGGAC

Phenotype

MIM: 610063 MIM: 614942

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

DNAH17 PubMed Links

Additional Information

For this assay, SNP(s) [rs78023288] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	5949	Silent Mutation	CGC,CGT	R4432R	NP_775899.3
XM_011525416.2	5949	Silent Mutation	CGC,CGT	R4436R	XP_011523718.1
XM_017025261.1	5949	Silent Mutation	CGC,CGT	R2214R	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	5949	Intron			NP_077733.3
XM_011525487.2	5949	Intron			XP_011523789.1
XM_011525488.2	5949	Intron			XP_011523790.1
XM_011525489.2	5949	UTR 3			XP_011523791.1
XM_017025357.1	5949	UTR 3			XP_016880846.1
XM_017025358.1	5949	UTR 3			XP_016880847.1
XM_017025359.1	5949	UTR 3			XP_016880848.1
XM_017025360.1	5949	UTR 3			XP_016880849.1
XM_017025361.1	5949	UTR 3			XP_016880850.1
XM_017025362.1	5949	UTR 3			XP_016880851.1
XM_017025363.1	5949	Intron			XP_016880852.1
XM_017025364.1	5949	UTR 3			XP_016880853.1
XM_017025365.1	5949	Intron			XP_016880854.1
XM_017025366.1	5949	Intron			XP_016880855.1

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