Product Details

SNP ID
rs147600217
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:84125232 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTCTTTTCCATTTTTCAACTTC[C/T]TTGTTTTGCTCAGTTTCTACTACTT
Phenotype
MIM: 610201 MIM: 615410
Polymorphism
C/T, 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 4288 Silent Mutation AAA,AAG K1274K NP_001273135.1
NM_014895.3 4288 Silent Mutation AAA,AAG K1350K NP_055710.2
XM_005248674.3 4288 Silent Mutation AAA,AAG K1312K XP_005248731.1
XM_005248678.3 4288 Intron XP_005248735.1
XM_006715380.2 4288 Silent Mutation AAA,AAG K1274K XP_006715443.1
XM_011535592.2 4288 Silent Mutation AAA,AAG K961K XP_011533894.1
XM_011535594.2 4288 Intron XP_011533896.1
XM_017010483.1 4288 Silent Mutation AAA,AAG K1312K XP_016865972.1
XM_017010484.1 4288 Silent Mutation AAA,AAG K1274K 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 4288 Intron NP_612418.2
XM_011535400.2 4288 Intron XP_011533702.1
XM_017010219.1 4288 Intron XP_016865708.1
XM_017010220.1 4288 Intron XP_016865709.1
XM_017010221.1 4288 Intron XP_016865710.1

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