Product Details

SNP ID
rs200137592
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149741630 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGGTGGCTGGGTCTGTCTGCAGA[A/G]CTTTGGTGTTGTGATCTCCATTTTG
Phenotype
MIM: 616699
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COMMD2 PubMed Links

Gene Details

Gene
COMMD2
Gene Name
COMM domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016094.3 546 Missense Mutation GCT,GTT A164V NP_057178.2

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