Product Details

SNP ID: rs3749608
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:661993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCGTGGGGCCTCTCCCTCCAGGATC[C/G]CAGGGTGCTCCAGGCCAGGACGGGC
Phenotype: MIM: 616475 MIM: 608773
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: CEP72 PubMed Links

Gene Details

Gene: CEP72
Gene Name: centrosomal protein 72

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018140.3	6087	Intron			NP_060610.2
XM_005248322.3	6087	Intron			XP_005248379.1
XM_011514063.1	6087	Intron			XP_011512365.1
XM_011514064.2	6087	Intron			XP_011512366.1
XM_017009626.1	6087	Intron			XP_016865115.1
XM_017009627.1	6087	Intron			XP_016865116.1

Gene: LOC101929895
Gene Name: uncharacterized LOC101929895

There are no transcripts associated with this gene.

Gene: TPPP
Gene Name: tubulin polymerization promoting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007030.2	6087	UTR 3			NP_008961.1
XM_005248237.3	6087	UTR 3			XP_005248294.2
XM_017008993.1	6087	UTR 3			XP_016864482.1
XM_017008994.1	6087	UTR 3			XP_016864483.1

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