Product Details

SNP ID
rs45457791
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48625997 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACCGCCACTGGCTGCCAGCACCC[C/T]GCTCCTCCATGGCGAGTTTGGCTCC
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_001204158.2 202 Intron NP_001191087.1
NM_001204159.2 202 Missense Mutation CCG,CTG P49L NP_001191088.1
NM_001204160.2 202 Missense Mutation CCG,CTG P13L NP_001191089.1
NM_001243876.1 202 Intron NP_001230805.1
NM_020126.4 202 Missense Mutation CCG,CTG P49L NP_064511.2
XM_006723292.1 202 Missense Mutation CCG,CTG P13L XP_006723355.1
XM_011527133.1 202 Missense Mutation CCG,CTG P49L XP_011525435.1
XM_011527134.1 202 Missense Mutation CCG,CTG P13L XP_011525436.1
XM_017027008.1 202 Missense Mutation CCG,CTG P111L XP_016882497.1
XM_017027009.1 202 Intron XP_016882498.1
XM_017027010.1 202 Missense Mutation CCG,CTG P49L XP_016882499.1

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