Product Details

SNP ID
rs199511750
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:12999534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGTCACTCTTTCTTCAAATCTTG[G/T]CTTGCCTGTTGCTGTTTCTACACTT
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_032142.3 245 Missense Mutation GGC,GTC G37V NP_115518.3
XM_005258107.3 245 Missense Mutation GGC,GTC G37V XP_005258164.1
XM_005258109.3 245 Missense Mutation GGC,GTC G37V XP_005258166.1
XM_005258110.1 245 Intron XP_005258167.1
XM_006722326.3 245 Missense Mutation GGC,GTC G37V XP_006722389.1
XM_006722327.3 245 Missense Mutation GGC,GTC G37V XP_006722390.1
XM_006722330.3 245 Missense Mutation GGC,GTC G37V XP_006722393.1
XM_011525673.2 245 Missense Mutation GGC,GTC G37V XP_011523975.1
XM_011525675.2 245 Intron XP_011523977.1
XM_017025803.1 245 UTR 5 XP_016881292.1
XM_017025804.1 245 Missense Mutation GGC,GTC G37V XP_016881293.1
XM_017025805.1 245 Intron XP_016881294.1
XM_017025806.1 245 Intron XP_016881295.1
XM_017025807.1 245 Intron XP_016881296.1

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