Product Details

SNP ID
rs117500243
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144359845 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTCTGTGGCCTTCTTAGCACTGG[A/C]CTTTGTGCTGGCACTGGCATGCTGT
Phenotype
MIM: 609076 MIM: 607882
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
FBXL6 PubMed Links

Gene Details

Gene
FBXL6
Gene Name
F-box and leucine rich repeat protein 6
There are no transcripts associated with this gene.

Gene
LOC101928902
Gene Name
uncharacterized LOC101928902
There are no transcripts associated with this gene.

Gene
SLC52A2
Gene Name
solute carrier family 52 member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001253815.1 914 Missense Mutation GAC,GCC D118A NP_001240744.1
NM_001253816.1 914 Missense Mutation GAC,GCC D118A NP_001240745.1
NM_024531.4 914 Missense Mutation GAC,GCC D118A NP_078807.1
XM_006716658.2 914 Missense Mutation GAC,GCC D118A XP_006716721.1
XM_006716659.2 914 Missense Mutation GAC,GCC D118A XP_006716722.1
XM_006716660.2 914 Missense Mutation GAC,GCC D118A XP_006716723.1
XM_011517300.2 914 Missense Mutation GAC,GCC D30A XP_011515602.1
XM_017013819.1 914 Missense Mutation GAC,GCC D118A XP_016869308.1
XM_017013820.1 914 Missense Mutation GAC,GCC D118A XP_016869309.1
XM_017013821.1 914 Intron XP_016869310.1
XM_017013822.1 914 Intron XP_016869311.1
Gene
TMEM249
Gene Name
transmembrane protein 249
There are no transcripts associated with this gene.

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