Product Details

SNP ID
rs139160168
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:122777638 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCTTCTTTCATGGGAAGAGGAT[C/T]GGCAGAAAGTGTTGACACTGGAAGA
Phenotype
MIM: 613481 MIM: 604550
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC62 PubMed Links

Gene Details

Gene
CCDC62
Gene Name
coiled-coil domain containing 62
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_201435.4 1234 Missense Mutation CGG,TGG R62W NP_958843.2
XM_006719643.1 1234 Missense Mutation CGG,TGG R62W XP_006719706.1
XM_006719644.1 1234 Missense Mutation CGG,TGG R62W XP_006719707.1
XM_011538856.1 1234 Missense Mutation CGG,TGG R62W XP_011537158.1
XM_011538857.1 1234 Missense Mutation CGG,TGG R62W XP_011537159.1
XM_011538859.1 1234 Intron XP_011537161.1
XM_017020033.1 1234 Missense Mutation CGG,TGG R62W XP_016875522.1
Gene
DENR
Gene Name
density regulated re-initiation and release factor
There are no transcripts associated with this gene.

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