Product Details

SNP ID
rs114561381
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:150965514 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGGAGGCAGTCAGATCTTAGAC[A/C]TGTCGCTACAGGGACAGCTGAAAGA
Phenotype
MIM: 606920 MIM: 604396
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CERS2 PubMed Links

Gene Details

Gene
CERS2
Gene Name
ceramide synthase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022075.4 2203 UTR 3 NP_071358.1
NM_181746.3 2203 UTR 3 NP_859530.1
XM_011509451.2 2203 UTR 3 XP_011507753.1
XM_011509452.2 2203 UTR 3 XP_011507754.1
Gene
SETDB1
Gene Name
SET domain bifurcated 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145415.1 2203 Intron NP_001138887.1
NM_001243491.1 2203 Intron NP_001230420.1
NM_012432.3 2203 Intron NP_036564.3
XM_005245641.3 2203 Intron XP_005245698.1
XM_017002953.1 2203 Intron XP_016858442.1
XM_017002954.1 2203 Intron XP_016858443.1
XM_017002955.1 2203 Intron XP_016858444.1

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