Product Details

SNP ID
rs202198298
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57799810 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCACTCACCTCCTTTTTGGCAGG[G/T]TTTACATCCTCAGGCAGCTCCTGAT
Phenotype
MIM: 613397 MIM: 604723
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
AVIL PubMed Links

Gene Details

Gene
AVIL
Gene Name
advillin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006576.3 5172 Missense Mutation AAA,AAC K777N NP_006567.3
XM_017018710.1 5172 Missense Mutation AAA,AAC K777N XP_016874199.1
XM_017018711.1 5172 Missense Mutation AAA,AAC K754N XP_016874200.1
XM_017018712.1 5172 Missense Mutation AAA,AAC K754N XP_016874201.1
XM_017018713.1 5172 Missense Mutation AAA,AAC K754N XP_016874202.1
XM_017018714.1 5172 Missense Mutation AAA,AAC K478N XP_016874203.1
XM_017018715.1 5172 Missense Mutation AAA,AAC K460N XP_016874204.1
Gene
TSFM
Gene Name
Ts translation elongation factor, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172695.1 5172 Intron NP_001166166.1
NM_001172696.1 5172 Intron NP_001166167.1
NM_001172697.1 5172 Intron NP_001166168.1
NM_005726.5 5172 Intron NP_005717.3

View Full Product Details