Product Details

SNP ID
rs140403863
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:84126408 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGTTCCTGTTCTCTTTGTGCATG[A/T]CTCATTTCCATCTGCTTAATTTTCT
Phenotype
MIM: 610201 MIM: 615410
Polymorphism
A/T, Transversion 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 4213 Silent Mutation AGA,AGT R1249S NP_001273135.1
NM_014895.3 4213 Silent Mutation AGA,AGT R1325S NP_055710.2
XM_005248674.3 4213 Missense Mutation AGA,AGT R1287S XP_005248731.1
XM_005248678.3 4213 Intron XP_005248735.1
XM_006715380.2 4213 Missense Mutation AGA,AGT R1249S XP_006715443.1
XM_011535592.2 4213 Missense Mutation AGA,AGT R936S XP_011533894.1
XM_011535594.2 4213 Intron XP_011533896.1
XM_017010483.1 4213 Missense Mutation AGA,AGT R1287S XP_016865972.1
XM_017010484.1 4213 Silent Mutation AGA,AGT R1249S 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 4213 Intron NP_612418.2
XM_011535400.2 4213 Intron XP_011533702.1
XM_017010219.1 4213 Intron XP_016865708.1
XM_017010220.1 4213 Intron XP_016865709.1
XM_017010221.1 4213 Intron XP_016865710.1

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