Product Details

SNP ID

rs148999400

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:150967135 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTAGAGTCCCAGCTCGGATGTAA[C/T]TGGCAAACCAGGAAAAGCTGATGAG

Phenotype

MIM: 606920 MIM: 604396

Polymorphism

C/T, Transition 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	1106	Missense Mutation	AAT,AGT	N227S	NP_071358.1
NM_181746.3	1106	Missense Mutation	AAT,AGT	N227S	NP_859530.1
XM_011509451.2	1106	Missense Mutation	AAT,AGT	N247S	XP_011507753.1
XM_011509452.2	1106	Missense Mutation	AAT,AGT	N227S	XP_011507754.1

Gene

SETDB1

Gene Name

SET domain bifurcated 1

There are no transcripts associated with this gene.

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