Product Details

SNP ID: rs147992054
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:6843411 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCCTGGGTCATGACCTGTGCCTAT[G/T]CCCCATCAGGGAACTTTGTGGCATG
Phenotype: MIM: 607749 MIM: 139130 MIM: 610342 MIM: 601447
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: CDCA3 PubMed Links

Gene Details

Gene: CDCA3
Gene Name: cell division cycle associated 3

There are no transcripts associated with this gene.

Gene: GNB3
Gene Name: G protein subunit beta 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297571.1	526	Missense Mutation	GCC,TCC	A106S	NP_001284500.1
NM_002075.3	526	Missense Mutation	GCC,TCC	A106S	NP_002066.1
XM_011520953.2	526	Missense Mutation	GCC,TCC	A106S	XP_011519255.1

Gene: P3H3
Gene Name: prolyl 3-hydroxylase 3

There are no transcripts associated with this gene.

Gene: USP5
Gene Name: ubiquitin specific peptidase 5

There are no transcripts associated with this gene.

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