Product Details

SNP ID
rs201071812
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48620547 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACACCTTGAAGCAGAGGAGCAGCA[A/G]GACCAGGTAAGGGACCATCTAAAAG
Phenotype
MIM: 604179 MIM: 607092
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FAM83E PubMed Links

Gene Details

Gene
FAM83E
Gene Name
family with sequence similarity 83 member E
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_001204158.2 234 Silent Mutation CAA,CAG Q11Q NP_001191087.1
NM_001204159.2 234 Silent Mutation CAA,CAG Q11Q NP_001191088.1
NM_001204160.2 234 Intron NP_001191089.1
NM_001243876.1 234 UTR 5 NP_001230805.1
NM_020126.4 234 Silent Mutation CAA,CAG Q11Q NP_064511.2
XM_006723292.1 234 Intron XP_006723355.1
XM_011527133.1 234 Silent Mutation CAA,CAG Q11Q XP_011525435.1
XM_011527134.1 234 Intron XP_011525436.1
XM_017027008.1 234 Intron XP_016882497.1
XM_017027009.1 234 UTR 5 XP_016882498.1
XM_017027010.1 234 Silent Mutation CAA,CAG Q11Q XP_016882499.1

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