Product Details

SNP ID
rs139701014
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48626033 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGAGTTTGGCTCCTACCCAGCCC[A/G]AGGCCCACGCTTTGCCCTCACCCTT
Phenotype
MIM: 124097 MIM: 604179 MIM: 607092
Polymorphism
A/G, 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_001204158.2 238 Intron NP_001191087.1
NM_001204159.2 238 Missense Mutation CAA,CGA Q61R NP_001191088.1
NM_001204160.2 238 Missense Mutation CAA,CGA Q25R NP_001191089.1
NM_001243876.1 238 Intron NP_001230805.1
NM_020126.4 238 Missense Mutation CAA,CGA Q61R NP_064511.2
XM_006723292.1 238 Missense Mutation CAA,CGA Q25R XP_006723355.1
XM_011527133.1 238 Missense Mutation CAA,CGA Q61R XP_011525435.1
XM_011527134.1 238 Missense Mutation CAA,CGA Q25R XP_011525436.1
XM_017027008.1 238 Missense Mutation CAA,CGA Q123R XP_016882497.1
XM_017027009.1 238 Intron XP_016882498.1
XM_017027010.1 238 Missense Mutation CAA,CGA Q61R XP_016882499.1

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