Product Details

SNP ID
rs116675190
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:133473514 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTCCCCCCAGGACTCGCTTTCCA[C/G]GCCCGCAGTGCTGTTGGGGCTCAGA
Phenotype
MIM: 613104 MIM: 606813
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CACFD1 PubMed Links

Gene Details

Gene
CACFD1
Gene Name
calcium channel flower domain containing 1
There are no transcripts associated with this gene.

Gene
SLC2A6
Gene Name
solute carrier family 2 member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145099.1 1190 Intron NP_001138571.1
NM_017585.3 1190 Missense Mutation CTG,GTG L375V NP_060055.2
XM_011518189.2 1190 Missense Mutation CTG,GTG L169V XP_011516491.2
XM_017014236.1 1190 Intron XP_016869725.1
XM_017014237.1 1190 Missense Mutation CTG,GTG L131V XP_016869726.1
XM_017014238.1 1190 Missense Mutation CTG,GTG L131V XP_016869727.1

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