Product Details

SNP ID
rs201911974
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:49062578 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGAGCCTGAAACTTCAGGAGCTC[C/T]GCAAAGTGTGTCTCCAGGAGGCGGT
Phenotype
MIM: 300947 MIM: 300840
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC120 PubMed Links

Gene Details

Gene
CCDC120
Gene Name
coiled-coil domain containing 120
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163321.2 478 Missense Mutation CGC,TGC R89C NP_001156793.2
NM_001163322.2 478 Missense Mutation CGC,TGC R42C NP_001156794.1
NM_001163323.2 478 Missense Mutation CGC,TGC R42C NP_001156795.1
NM_001271835.1 478 Missense Mutation CGC,TGC R54C NP_001258764.1
NM_001271836.1 478 Missense Mutation CGC,TGC R54C NP_001258765.1
NM_033626.3 478 Missense Mutation CGC,TGC R54C NP_296375.1
Gene
PRAF2
Gene Name
PRA1 domain family member 2
There are no transcripts associated with this gene.

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