Product Details

SNP ID

rs12302465

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:50129746 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTGGAAAAGCTCTTAATTAGCTTA[C/T]GGATTCAGGAAACTGCGGATAGAGT

Phenotype

MIM: 615335 MIM: 614478

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CERS5 PubMed Links

Additional Information

For this assay, SNP(s) [rs79537743] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CERS5

Gene Name

ceramide synthase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281731.1	2214	UTR 3			NP_001268660.1
NM_147190.3	2214	UTR 3			NP_671723.1
XM_005269220.2	2214	Intron			XP_005269277.1
XM_006719687.3	2214	Intron			XP_006719750.1
XM_011538975.2	2214	Intron			XP_011537277.1
XM_017020202.1	2214	Intron			XP_016875691.1
XM_017020203.1	2214	Intron			XP_016875692.1
XM_017020204.1	2214	Intron			XP_016875693.1
XM_017020205.1	2214	Intron			XP_016875694.1

Gene

COX14

Gene Name

COX14, cytochrome c oxidase assembly factor

There are no transcripts associated with this gene.

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