Product Details

SNP ID
rs145203687
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:64500139 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGACACAAAATTACTTCCAAAGCT[C/T]CCATTGGTGTAATTTGCAGCACTGT
Phenotype
MIM: 180630 MIM: 604983
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CEP95 PubMed Links

Gene Details

Gene
CEP95
Gene Name
centrosomal protein 95
There are no transcripts associated with this gene.

Gene
DDX5
Gene Name
DEAD-box helicase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320595.1 2031 Silent Mutation NP_001307524.1
NM_001320596.1 2031 Silent Mutation NP_001307525.1
NM_001320597.1 2031 Silent Mutation NP_001307526.1
NM_004396.4 2031 Silent Mutation NP_004387.1
Gene
MIR3064
Gene Name
microRNA 3064
There are no transcripts associated with this gene.

Gene
MIR5047
Gene Name
microRNA 5047
There are no transcripts associated with this gene.

Gene
POLG2
Gene Name
DNA polymerase gamma 2, accessory subunit
There are no transcripts associated with this gene.

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