Product Details

SNP ID
rs141970788
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:75549855 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACGCTGGCTGCCGCTGGAGGCCA[A/G]TCCCGAGGTGGGCGCGCTTCGGGGC
Phenotype
MIM: 612377 MIM: 603090
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COMMD6 PubMed Links

Gene Details

Gene
COMMD6
Gene Name
COMM domain containing 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287392.1 106 Intron NP_001274321.1
NM_001287393.1 106 Intron NP_001274322.1
NM_001287394.1 106 Intron NP_001274323.1
NM_203495.3 106 Intron NP_987091.1
NM_203497.3 106 Intron NP_987093.1
XM_011534948.2 106 Intron XP_011533250.1
Gene
UCHL3
Gene Name
ubiquitin C-terminal hydrolase L3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270952.1 106 Intron NP_001257881.1
NM_006002.4 106 Missense Mutation AAT,AGT N12S NP_005993.1
XM_011535212.1 106 Missense Mutation AAT,AGT N12S XP_011533514.1
XM_011535213.2 106 Missense Mutation AAT,AGT N12S XP_011533515.1
XM_011535214.2 106 Intron XP_011533516.1
XM_017020725.1 106 Missense Mutation AAT,AGT N12S XP_016876214.1
XM_017020726.1 106 Missense Mutation AAT,AGT N12S XP_016876215.1
XM_017020727.1 106 Missense Mutation AAT,AGT N12S XP_016876216.1

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