Product Details

SNP ID
rs188630370
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:36274705 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTAACATGGTGTCCAGTGTTTCT[C/T]TGCTCAGCTCCACGGTGACAGCTGA
Phenotype
MIM: 612299
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COMMD9 PubMed Links

Gene Details

Gene
COMMD9
Gene Name
COMM domain containing 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001101653.1 526 Missense Mutation AAA,AGA K133R NP_001095123.1
NM_001307932.1 526 Silent Mutation CAA,CAG Q163Q NP_001294861.1
NM_001307937.1 526 Missense Mutation AAA,AGA K166R NP_001294866.1
NM_014186.3 526 Missense Mutation AAA,AGA K175R NP_054905.2
XM_017017625.1 526 Silent Mutation CAA,CAG Q140Q XP_016873114.1

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