Product Details

SNP ID
rs201341810
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:27340755 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGCTGGACGAGGTTTATGTTTC[A/G]CATTTTCCAACCATTCTTGAAACTT
Phenotype
MIM: 612324
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC34 PubMed Links

Gene Details

Gene
CCDC34
Gene Name
coiled-coil domain containing 34
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030771.1 902 Missense Mutation GCG,GTG A283V NP_110398.1
NM_080654.2 902 Intron NP_542385.1

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