Product Details

SNP ID
rs11544355
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48626089 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGCCCTGCACATACAGCGGCTG[C/T]GCCCCAAACCTGAAGCCAGGCCCCG
Phenotype
MIM: 124097 MIM: 604179 MIM: 607092
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DBP PubMed Links

Gene Details

Gene
DBP
Gene Name
D-box binding PAR bZIP transcription factor
There are no transcripts associated with this gene.

Gene
RPL18
Gene Name
ribosomal protein L18
There are no transcripts associated with this gene.

Gene
SPHK2
Gene Name
sphingosine kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204158.2 294 Missense Mutation CGC,TGC R21C NP_001191087.1
NM_001204159.2 294 Missense Mutation CGC,TGC R80C NP_001191088.1
NM_001204160.2 294 Missense Mutation CGC,TGC R44C NP_001191089.1
NM_001243876.1 294 Intron NP_001230805.1
NM_020126.4 294 Missense Mutation CGC,TGC R80C NP_064511.2
XM_006723292.1 294 Missense Mutation CGC,TGC R44C XP_006723355.1
XM_011527133.1 294 Missense Mutation CGC,TGC R80C XP_011525435.1
XM_011527134.1 294 Missense Mutation CGC,TGC R44C XP_011525436.1
XM_017027008.1 294 Missense Mutation CGC,TGC R142C XP_016882497.1
XM_017027009.1 294 Intron XP_016882498.1
XM_017027010.1 294 Missense Mutation CGC,TGC R80C XP_016882499.1

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