Product Details

SNP ID
rs191973283
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:61905730 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAACCCCTGAGCGGGCTGCTGAAT[G/T]CGCTGGCCCAGGACACTTTCCACGG
Phenotype
MIM: 607238
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
COMMD1 PubMed Links

Gene Details

Gene
COMMD1
Gene Name
copper metabolism domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321781.1 87 Intron NP_001308710.1
NM_001321782.1 87 Intron NP_001308711.1
NM_152516.3 87 Missense Mutation GCG,TCG A18S NP_689729.1
XM_011532558.2 87 Missense Mutation GCG,TCG A18S XP_011530860.1
XM_011532559.2 87 Intron XP_011530861.1
XM_017003412.1 87 Intron XP_016858901.1

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