Product Details

SNP ID
rs200102613
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144359377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATGGGCTCCTGGGCTGCGGTCAA[C/T]GGGATCTGGGTGGAGCTACCTGTGG
Phenotype
MIM: 609076 MIM: 607882
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FBXL6 PubMed Links

Gene Details

Gene
FBXL6
Gene Name
F-box and leucine rich repeat protein 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012162.3 645 Intron NP_036294.2
NM_024555.5 645 Intron NP_078831.4
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_001253815.1 645 Silent Mutation AAC,AAT N28N NP_001240744.1
NM_001253816.1 645 Silent Mutation AAC,AAT N28N NP_001240745.1
NM_024531.4 645 Silent Mutation AAC,AAT N28N NP_078807.1
XM_006716658.2 645 Silent Mutation AAC,AAT N28N XP_006716721.1
XM_006716659.2 645 Silent Mutation AAC,AAT N28N XP_006716722.1
XM_006716660.2 645 Silent Mutation AAC,AAT N28N XP_006716723.1
XM_011517300.2 645 Intron XP_011515602.1
XM_017013819.1 645 Silent Mutation AAC,AAT N28N XP_016869308.1
XM_017013820.1 645 Silent Mutation AAC,AAT N28N XP_016869309.1
XM_017013821.1 645 Silent Mutation AAC,AAT N28N XP_016869310.1
XM_017013822.1 645 Silent Mutation AAC,AAT N28N XP_016869311.1
Gene
TMEM249
Gene Name
transmembrane protein 249
There are no transcripts associated with this gene.

View Full Product Details