Product Details

SNP ID
rs184135971
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:102013164 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTCTTCTACAGTTTTCTCACTTT[C/T]GCCATCAGGCACTGGAGCATCTGGC
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC53 PubMed Links

Gene Details

Gene
CCDC53
Gene Name
coiled-coil domain containing 53
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301107.1 691 Missense Mutation CAA,TAA Q176* NP_001288036.1
NM_016053.3 691 Missense Mutation CAA,TAA Q177* NP_057137.1
XM_011538423.1 691 Intron XP_011536725.1
XM_017019383.1 691 Intron XP_016874872.1

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