Product Details

SNP ID
rs201268554
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:418427 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGCTGGGGTGGGATGGGCAGGCA[C/T]TGGGGGCCGAGAGCCTGCCCCCACC
Phenotype
MIM: 605478
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANO9 PubMed Links

Gene Details

Gene
ANO9
Gene Name
anoctamin 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012302.2 2378 Missense Mutation ATG,GTG M765V NP_001012302.2
XM_011520048.1 2378 Intron XP_011518350.1
XM_011520051.2 2378 Intron XP_011518353.1
XM_011520052.2 2378 Intron XP_011518354.1
XM_011520053.2 2378 Missense Mutation ATG,GTG M466V XP_011518355.1
XM_017017644.1 2378 Intron XP_016873133.1
XM_017017645.1 2378 Intron XP_016873134.1
XM_017017646.1 2378 Intron XP_016873135.1
XM_017017647.1 2378 Intron XP_016873136.1
Gene
SIGIRR
Gene Name
single Ig and TIR domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135053.1 2378 Intron NP_001128525.1
NM_001135054.1 2378 Intron NP_001128526.1
NM_021805.2 2378 Intron NP_068577.2
XM_005253044.2 2378 Intron XP_005253101.1
XM_005253045.1 2378 Intron XP_005253102.1
XM_005253046.1 2378 Intron XP_005253103.1
XM_005253048.4 2378 Intron XP_005253105.1
XM_017018099.1 2378 Intron XP_016873588.1
XM_017018100.1 2378 Intron XP_016873589.1

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