Product Details

SNP ID
rs180793650
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:12999444 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGAGATGGAAGATTTTCGAGGTA[G/T]AGCAGAAGAATCATTTCCAAGCTTT
Phenotype
MIM: 616426
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CEP192 PubMed Links

Gene Details

Gene
CEP192
Gene Name
centrosomal protein 192
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032142.3 155 Missense Mutation AGA,ATA R7I NP_115518.3
XM_005258107.3 155 Missense Mutation AGA,ATA R7I XP_005258164.1
XM_005258109.3 155 Missense Mutation AGA,ATA R7I XP_005258166.1
XM_005258110.1 155 Intron XP_005258167.1
XM_006722326.3 155 Missense Mutation AGA,ATA R7I XP_006722389.1
XM_006722327.3 155 Missense Mutation AGA,ATA R7I XP_006722390.1
XM_006722330.3 155 Missense Mutation AGA,ATA R7I XP_006722393.1
XM_011525673.2 155 Missense Mutation AGA,ATA R7I XP_011523975.1
XM_011525675.2 155 Intron XP_011523977.1
XM_017025803.1 155 UTR 5 XP_016881292.1
XM_017025804.1 155 Missense Mutation AGA,ATA R7I XP_016881293.1
XM_017025805.1 155 Intron XP_016881294.1
XM_017025806.1 155 Intron XP_016881295.1
XM_017025807.1 155 Intron XP_016881296.1

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