Product Details

SNP ID
rs201008929
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57802196 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGGTCCCAGGCTAGGAACCAGCC[C/T]GTGAAGATGGGAGGCTCAAACCCCT
Phenotype
MIM: 613397 MIM: 604723
Polymorphism
C/T, Transition 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 4956 Silent Mutation ACA,ACG T705T NP_006567.3
XM_017018710.1 4956 Silent Mutation ACA,ACG T705T XP_016874199.1
XM_017018711.1 4956 Silent Mutation ACA,ACG T682T XP_016874200.1
XM_017018712.1 4956 Silent Mutation ACA,ACG T682T XP_016874201.1
XM_017018713.1 4956 Silent Mutation ACA,ACG T682T XP_016874202.1
XM_017018714.1 4956 Silent Mutation ACA,ACG T406T XP_016874203.1
XM_017018715.1 4956 Silent Mutation ACA,ACG T388T 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 4956 Intron NP_001166166.1
NM_001172696.1 4956 Intron NP_001166167.1
NM_001172697.1 4956 Intron NP_001166168.1
NM_005726.5 4956 Intron NP_005717.3

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