Product Details

SNP ID: rs138513766
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:49073865 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAAGGTAGTTGGTTTGGTAGTAGAG[C/G]AGGTTGTTGATGACGCGGTGGCACC
Phenotype: MIM: 300947 MIM: 300840 MIM: 300526
Polymorphism: C/G, Transversion 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007213.2	181	Silent Mutation	CTC,CTG	L41L	NP_009144.1

Gene: WDR45
Gene Name: WD repeat domain 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001029896.1	181	Intron			NP_001025067.1
NM_007075.3	181	Intron			NP_009006.2

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