Product Details

SNP ID
rs148184205
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48620539 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGAATGGACACCTTGAAGCAGAG[A/G]AGCAGCAGGACCAGGTAAGGGACCA
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_001204158.2 226 Missense Mutation AAG,GAG K9E NP_001191087.1
NM_001204159.2 226 Missense Mutation AAG,GAG K9E NP_001191088.1
NM_001204160.2 226 Intron NP_001191089.1
NM_001243876.1 226 UTR 5 NP_001230805.1
NM_020126.4 226 Missense Mutation AAG,GAG K9E NP_064511.2
XM_006723292.1 226 Intron XP_006723355.1
XM_011527133.1 226 Missense Mutation AAG,GAG K9E XP_011525435.1
XM_011527134.1 226 Intron XP_011525436.1
XM_017027008.1 226 Intron XP_016882497.1
XM_017027009.1 226 UTR 5 XP_016882498.1
XM_017027010.1 226 Missense Mutation AAG,GAG K9E XP_016882499.1

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