Product Details

SNP ID
rs148849505
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48904435 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTGGCAGAGGAGGAGATGGCCAA[A/C]AAGAAGGAGAGGCTCCTCAGCCAGT
Phenotype
MIM: 611088
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CCDC65 PubMed Links

Gene Details

Gene
CCDC65
Gene Name
coiled-coil domain containing 65
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286957.1 326 UTR 5 NP_001273886.1
NM_033124.4 326 Missense Mutation AAA,AAC K33N NP_149115.2

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