Product Details

SNP ID
rs147437546
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:49076729 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCTCCTTGGAGTCCTTGCCCTCC[C/T]GGGCATCGTCCCAGATCAGCACTGC
Phenotype
MIM: 300947 MIM: 300840 MIM: 300526
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CCDC120 PubMed Links

Gene Details

Gene
CCDC120
Gene Name
coiled-coil domain containing 120
There are no transcripts associated with this gene.

Gene
PRAF2
Gene Name
PRA1 domain family member 2
There are no transcripts associated with this gene.

Gene
WDR45
Gene Name
WD repeat domain 45
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001029896.1 699 Missense Mutation CAG,CGG Q86R NP_001025067.1
NM_007075.3 699 Missense Mutation CAG,CGG Q87R NP_009006.2

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