Product Details

SNP ID
rs78654567
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:84125129 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAACTGGCACAACCACTCCTTGCC[A/G]GTGCAGCTCTCGGAGAACATCTAAT
Phenotype
MIM: 610201 MIM: 615410
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CEP162 PubMed Links

Gene Details

Gene
CEP162
Gene Name
centrosomal protein 162
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286206.1 4391 Missense Mutation CGG,TGG R1309W NP_001273135.1
NM_014895.3 4391 Missense Mutation CGG,TGG R1385W NP_055710.2
XM_005248674.3 4391 Missense Mutation CGG,TGG R1347W XP_005248731.1
XM_005248678.3 4391 Intron XP_005248735.1
XM_006715380.2 4391 Missense Mutation CGG,TGG R1309W XP_006715443.1
XM_011535592.2 4391 Missense Mutation CGG,TGG R996W XP_011533894.1
XM_011535594.2 4391 Intron XP_011533896.1
XM_017010483.1 4391 Missense Mutation CGG,TGG R1347W XP_016865972.1
XM_017010484.1 4391 Missense Mutation CGG,TGG R1309W XP_016865973.1
Gene
MRAP2
Gene Name
melanocortin 2 receptor accessory protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138409.2 4391 Intron NP_612418.2
XM_011535400.2 4391 Intron XP_011533702.1
XM_017010219.1 4391 Intron XP_016865708.1
XM_017010220.1 4391 Intron XP_016865709.1
XM_017010221.1 4391 Intron XP_016865710.1

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