Product Details

SNP ID
rs138818944
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:5563532 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTCCGTGGGGATGTCTGGAATCA[C/T]CCAGTCCACGAGGACGCTCAGGAAC
Phenotype
MIM: 610109
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANO2 PubMed Links

Gene Details

Gene
ANO2
Gene Name
anoctamin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278596.1 3096 Missense Mutation ATG,GTG M927V NP_001265525.1
NM_001278597.1 3096 Missense Mutation ATG,GTG M923V NP_001265526.1
XM_006718988.3 3096 Missense Mutation ATG,GTG M922V XP_006719051.1
XM_011520975.2 3096 Missense Mutation ATG,GTG M918V XP_011519277.1
XM_011520978.2 3096 Missense Mutation ATG,GTG M711V XP_011519280.1
XM_017019672.1 3096 Intron XP_016875161.1

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