Product Details

SNP ID

rs115058579

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:729774 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGAAGCCACAGGCGCAGTGATCC[A/T]TTTTGGCAACGGGAAGTCCGTGGAC

Phenotype

MIM: 614864 MIM: 176911

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DNAAF5 PubMed Links

Gene Details

Gene

DNAAF5

Gene Name

dynein axonemal assembly factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017802.3	727	Missense Mutation	CAT,CTT	H236L	NP_060272.3

Gene

PRKAR1B

Gene Name

protein kinase cAMP-dependent type I regulatory subunit beta

There are no transcripts associated with this gene.

View Full Product Details